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Variant : CV164170 (GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3) Homo sapiens

Symbol: CV164170
Name: GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3
Condition: See cases [RCV000142483]
Clinical Significance: uncertain significance
Last Evaluated: 08/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110684598)_(112308164_?)dup
NC_000002.11:g.(?_111442175)_(113065741_?)dup
NC_000002.10:g.(?_111158646)_(112782212_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,684,598 - 112,308,164CLINVAR
GRCh372111,442,175 - 113,065,741CLINVAR
Build 362111,158,646 - 112,782,212CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490081
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.