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Variant : CV384132 (GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3) Homo sapiens

Symbol: CV384132
Name: GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3
Condition: See cases [RCV000446524]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACYP2   C2orf73   CCDC85A   CCDC88A   CFAP36   CLHC1   EFEMP1   EML6   MIR216A   MIR217   MTIF2   PNPT1   PPP4R3B   RPS27A   RTN4   SPTBN1   TSPYL6  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37254,234,790 - 57,365,499CLINVAR
Cytogenetic Map22p16.2-16.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851247
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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