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Variant : CV162901 (GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3) Homo sapiens

Symbol: CV162901
Name: GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3
Condition: See cases [RCV000141646]
Clinical Significance: pathogenic
Last Evaluated: 04/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD3   ANKRD29   AQP4   AQP4-AS1   ASXL3   B4GALT6   CABLES1   CABYR   CCDC178   CDH2   CHST9   CTAGE1   DSC1   DSC2   DSC3   DSCAS   DSG1   DSG1-AS1   DSG2   DSG2-AS1   DSG3   DSG4   ESCO1   GAREM1   GATA6   GATA6-AS1   GREB1L   HRH4   IMPACT   KCTD1   KLHL14   LAMA3   LINC01543   LINC01894   LINC01900   LINC01908   LINC01915   MEP1B   MIB1   MIR1-2   MIR133A1   MIR133A1HG   MIR302F   MIR320C1   MIR320C2   MIR4741   MIR8057   NOL4   NPC1   OSBPL1A   PCAT18   PSMA8   RBBP8   RIOK3   RMC1   RNF125   RNF138   ROCK1   SLC25A52   SNRPD1   SS18   TAF4B   TMEM241   TRAPPC8   TTC39C   TTC39C-AS1   TTR   ZNF521  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000018.10:g.(?_20949378)_(34363455_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381820,949,378 - 34,363,455CLINVAR
GRCh371818,529,339 - 31,943,419CLINVAR
Build 361816,783,337 - 30,197,417CLINVAR
Cytogenetic Map1818q11.1-12.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489171
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.