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Variant : CV674077 (GRCh37/hg19 2q13(chr2:111382460-113137975)x3) Homo sapiens

Symbol: CV674077
Name: GRCh37/hg19 2q13(chr2:111382460-113137975)x3
Condition: not provided [RCV000847193]
Clinical Significance: pathogenic
Last Evaluated: 12/12/2017
Review Status: no assertion criteria provided
Related Genes: ACOXL   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   RGPD8   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372111,382,460 - 113,137,975CLINVAR
Cytogenetic Map22q13CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14977772
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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