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Variant : CV593823 (GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3) Homo sapiens

Symbol: CV593823
Name: GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3
Condition: not provided [RCV000739123]
Clinical Significance: benign
Last Evaluated: 12/10/2014
Review Status: no assertion criteria provided
Related Genes: AHSP   ARMC5   BCKDK   BCL7C   C16orf58   CCDC189   COX6A2   CTF1   FBXL19   FUS   HSD3B7   ITGAD   ITGAM   ITGAX   KAT8   ORAI3   PHKG2   PRSS36   PRSS53   PRSS8   PYCARD   PYDC1   RNF40   SETD1A   SLC5A2   SRCAP   STX1B   STX4   TGFB1I1   TP53TG3   TP53TG3B   TP53TG3C   TP53TG3D   TRIM72   VKORC1   ZNF267   ZNF629   ZNF646   ZNF668   ZNF720   ZNF843  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371630,738,551 - 34,194,635CLINVAR
Cytogenetic Map1616p11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14354500
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



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