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Variant : CV159413 (GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3) Homo sapiens

Symbol: CV159413
Name: GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3
Condition: See cases [RCV000138645]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC013271.1   ACOXL   BUB1   C2orf49   C2orf49-DT   CCDC138   CD8B2   ECRG4   EDAR   FHL2   GACAT1   GCC2   GCC2-AS1   GPR45   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   LIMS1   LIMS1-AS1   LIMS3   LIMS4   LINC01102   LINC01103   LINC01106   LINC01114   LINC01123   LINC01127   LINC01159   LINC01593   LINC01594   LINC01789   LINC01796   LINC01831   LINC01885   LINC01886   LINC01918   LINC01935   LOC100287010   LOC105373553   LOC107305683   LOC107305684   LOC107305685   LOC107305686   LOC110120670   LOC110120750   LOC110120793   LOC110120814   LOC110120821   LOC110120987   LOC110120992   LOC110121001   LOC110121005   LOC110121017   LOC110121029   LOC110121047   LOC110121130   LOC110121132   LOC110121135   LOC110121140   LOC110121141   LOC110121142   LOC110121149   LOC111828510   LOC112695110   LOC112695111   LOC112695112   LOC112695113   LOC112695114   LOC112695115   LOC114004366   LOC114827847   LOC285000   MALL   MAP4K4   MFSD9   MIR4265   MIR4266   MIR4267   MIR4436B1   MIR4436B2   MIR4772   MRPS9   MRPS9-AS1   MRPS9-AS2   MTLN   NCK2   NPHP1   PANTR1   POU3F3   RANBP2   RGPD3   RGPD4   RGPD4-AS1   RGPD5   RGPD6   SEPTIN10   SH3RF3   SH3RF3-AS1   SLC5A7   SLC9A2   SLC9A4   SNORD132   SOWAHC   ST6GAL2   SULT1C2   SULT1C3   SULT1C4   TGFBRAP1   TMEM182   UXS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_101710825)_(110791418_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382101,710,825 - 110,791,418CLINVAR
GRCh372102,327,287 - 111,548,995CLINVAR
Build 362101,693,719 - 111,265,466CLINVAR
Cytogenetic Map22q11.2-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9486184
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.