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Variant : CV163824 (GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3) Homo sapiens

Symbol: CV163824
Name: GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3
Condition: See cases [RCV000142226]
Clinical Significance: pathogenic
Last Evaluated: 12/03/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD3   ANKRD29   AQP4   AQP4-AS1   ASXL3   B4GALT6   C18orf21   CABLES1   CABYR   CCDC178   CDH2   CELF4   CHST9   CTAGE1   DSC1   DSC2   DSC3   DSCAS   DSG1   DSG1-AS1   DSG2   DSG2-AS1   DSG3   DSG4   DTNA   ELP2   ESCO1   FHOD3   GALNT1   GAREM1   GATA6   GATA6-AS1   GREB1L   HRH4   IMPACT   INO80C   KCTD1   KIAA1328   KLHL14   LAMA3   LINC01477   LINC01543   LINC01894   LINC01900   LINC01901   LINC01902   LINC01908   LINC01915   MAPRE2   MEP1B   MIB1   MIR1-2   MIR133A1   MIR133A1HG   MIR187   MIR302F   MIR320C1   MIR320C2   MIR3929   MIR3975   MIR4318   MIR4741   MIR5583-1   MIR5583-2   MIR8057   MIR924   MIR924HG   MOCOS   NOL4   NPC1   OSBPL1A   PCAT18   PSMA8   RBBP8   RIOK3   RMC1   RNF125   RNF138   ROCK1   RPRD1A   SLC25A52   SLC39A6   SNORA111   SNRPD1   SS18   TAF4B   TMEM241   TPGS2   TRAPPC8   TTC39C   TTC39C-AS1   TTR   ZNF24   ZNF396   ZNF397   ZNF521   ZSCAN30  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_20941324)_(40360620_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381820,941,324 - 40,360,620CLINVAR
GRCh371818,521,285 - 37,940,584CLINVAR
Build 361816,775,283 - 36,194,582CLINVAR
Cytogenetic Map1818q11.1-12.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489745
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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