GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 |
copy number gain |
See cases [RCV000136807] |
Chr16:15060830..18535437 [GRCh38] Chr16:15154687..18546759 [GRCh37] Chr16:15062188..18454260 [NCBI36] Chr16:16p13.11-12.3 |
pathogenic |
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 |
copy number gain |
See cases [RCV000137451] |
Chr16:15261472..18768479 [GRCh38] Chr16:15355329..18779801 [GRCh37] Chr16:15262830..18687302 [NCBI36] Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 |
copy number gain |
See cases [RCV000137543] |
Chr16:14783830..18680735 [GRCh38] Chr16:14877687..18692057 [GRCh37] Chr16:14785188..18599558 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 |
copy number gain |
See cases [RCV000137588] |
Chr16:15194583..18726698 [GRCh38] Chr16:15288440..18738020 [GRCh37] Chr16:15195941..18645521 [NCBI36] Chr16:16p13.11-12.3 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:16541781-18768479)x3 |
copy number gain |
See cases [RCV000137333] |
Chr16:16541781..18768479 [GRCh38] Chr16:16635638..18779801 [GRCh37] Chr16:16543139..18687302 [NCBI36] Chr16:16p13.11-12.3 |
pathogenic|uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 |
copy number gain |
See cases [RCV000138546] |
Chr16:15186140..18768479 [GRCh38] Chr16:15279997..18779801 [GRCh37] Chr16:15187498..18687302 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 |
copy number gain |
See cases [RCV000137700] |
Chr16:15186140..18783183 [GRCh38] Chr16:15279997..18794505 [GRCh37] Chr16:15187498..18702006 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3 |
copy number gain |
See cases [RCV000138195] |
Chr16:16753846..18768479 [GRCh38] Chr16:16847703..18779801 [GRCh37] Chr16:16755204..18687302 [NCBI36] Chr16:16p12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 |
copy number gain |
See cases [RCV000138254] |
Chr16:14783830..18768479 [GRCh38] Chr16:14877687..18779801 [GRCh37] Chr16:14785188..18687302 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 |
copy number gain |
See cases [RCV000139051] |
Chr16:15184811..18535419 [GRCh38] Chr16:15278668..18546741 [GRCh37] Chr16:15186169..18454242 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 |
copy number gain |
See cases [RCV000148077] |
Chr16:15186140..18620659 [GRCh38] Chr16:15279997..18631981 [GRCh37] Chr16:15187498..18539482 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] |
Chr16:15185940..18658544 [GRCh38] Chr16:15279797..18669866 [GRCh37] Chr16:15187298..18577367 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 |
copy number gain |
See cases [RCV000053095] |
Chr16:15186140..18658403 [GRCh38] Chr16:15279997..18669725 [GRCh37] Chr16:15187498..18577226 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance|conflicting data from submitters |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 |
copy number gain |
See cases [RCV000053096] |
Chr16:15186140..18620659 [GRCh38] Chr16:15279997..18631981 [GRCh37] Chr16:15187498..18539482 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance|conflicting data from submitters |
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 |
copy number gain |
See cases [RCV000053099] |
Chr16:15310595..18620659 [GRCh38] Chr16:15404452..18631981 [GRCh37] Chr16:15311953..18539482 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 |
copy number gain |
See cases [RCV000051141] |
Chr16:15457445..18658403 [GRCh38] Chr16:15551302..18669725 [GRCh37] Chr16:15458803..18577226 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 |
copy number gain |
See cases [RCV000140646] |
Chr16:15128213..18577521 [GRCh38] Chr16:15222070..18588843 [GRCh37] Chr16:15129571..18496344 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 |
copy number gain |
See cases [RCV000143143] |
Chr16:14783830..18536926 [GRCh38] Chr16:14877687..18548248 [GRCh37] Chr16:14785188..18455749 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 |
copy number gain |
See cases [RCV000148146] |
Chr16:15186140..18658403 [GRCh38] Chr16:15279997..18669725 [GRCh37] Chr16:15187498..18577226 [NCBI36] Chr16:16p13.11-12.3 |
uncertain significance |
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 |
copy number gain |
See cases [RCV000051353] |
Chr16:14609647..18765817 [GRCh38] Chr16:14703504..18777139 [GRCh37] Chr16:14611005..18684640 [NCBI36] Chr16:16p13.12-12.3 |
uncertain significance |
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 |
copy number loss |
See cases [RCV000050970] |
Chr16:14816348..18658403 [GRCh38] Chr16:14910205..18669725 [GRCh37] Chr16:14817706..18577226 [NCBI36] Chr16:16p13.11-12.3 |
pathogenic |
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 |
copy number loss |
See cases [RCV000051057] |
Chr16:15140576..18658403 [GRCh38] Chr16:15234433..18669725 [GRCh37] Chr16:15141934..18577226 [NCBI36] Chr16:16p13.11-12.3 |
pathogenic |
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) |
copy number loss |
Autism spectrum disorder [RCV003883423] |
Chr16:15184811..18708191 [GRCh38] Chr16:16p13.11-12.3 |
pathogenic |
Single allele |
duplication |
Schizophrenia [RCV000754173] |
Chr16:15085515..18775195 [GRCh38] Chr16:16p13.11-12.3 |
pathogenic |