GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 |
copy number gain |
See cases [RCV000133997] |
Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 |
copy number gain |
See cases [RCV000136112] |
Chr11:1975511..2888695 [GRCh38] Chr11:1996741..2909925 [GRCh37] Chr11:1953317..2866501 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3 |
copy number gain |
See cases [RCV000137018] |
Chr11:1975511..2138446 [GRCh38] Chr11:1996741..2159676 [GRCh37] Chr11:1953317..2116252 [NCBI36] Chr11:11p15.5 |
benign |
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 |
copy number gain |
See cases [RCV000136847] |
Chr11:1537379..3360769 [GRCh38] Chr11:1558609..3381999 [GRCh37] Chr11:1515185..3338575 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 |
copy number loss |
See cases [RCV000137066] |
Chr11:1975511..3624139 [GRCh38] Chr11:1996741..3645369 [GRCh37] Chr11:1953317..3601945 [NCBI36] Chr11:11p15.5-15.4 |
uncertain significance |
GRCh38/hg38 11p15.5(chr11:2052381-2138446)x3 |
copy number gain |
See cases [RCV000137157] |
Chr11:2052381..2138446 [GRCh38] Chr11:2073611..2159676 [GRCh37] Chr11:2030187..2116252 [NCBI36] Chr11:11p15.5 |
uncertain significance |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 |
copy number gain |
See cases [RCV000139987] |
Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:2127344-2159430)x3 |
copy number gain |
See cases [RCV000141243] |
Chr11:2127344..2159430 [GRCh38] Chr11:2148574..2180660 [GRCh37] Chr11:2105150..2137236 [NCBI36] Chr11:11p15.5 |
uncertain significance |
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 |
copy number loss |
See cases [RCV000142464] |
Chr11:1132899..3213923 [GRCh38] Chr11:1126807..3235153 [GRCh37] Chr11:1116807..3191729 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 |
copy number gain |
See cases [RCV000142890] |
Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3 |
copy number gain |
See cases [RCV000143587] |
Chr11:2106943..2565669 [GRCh38] Chr11:2128173..2586899 [GRCh37] Chr11:2084749..2543475 [NCBI36] Chr11:11p15.5 |
uncertain significance |
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 |
copy number gain |
See cases [RCV000050927] |
Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 |
copy number gain |
See cases [RCV000050947] |
Chr11:196966..3377077 [GRCh38] Chr11:196966..3398307 [GRCh37] Chr11:186966..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 |
copy number gain |
See cases [RCV000053613] |
Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 |
copy number gain |
See cases [RCV000053614] |
Chr11:218365..3377077 [GRCh38] Chr11:218365..3398307 [GRCh37] Chr11:208365..3354883 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] |
Chr11:196966..3624139 [GRCh38] Chr11:196966..3645369 [GRCh37] Chr11:186966..3601945 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del |
deletion |
Thalassemia, gamma-delta-beta [RCV000015529] |
Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4 |
pathogenic |