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Variant : CV163783 (GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1) Homo sapiens

Symbol: CV163783
Name: GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1
Condition: See cases [RCV000142199]
Clinical Significance: uncertain significance
Last Evaluated: 11/27/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACOXL   ACOXL-AS1   ANAPC1   BCL2L11   BUB1   FBLN7   MERTK   MIR4435-2   MIR4435-2HG   MIR4771-2   SNORD132   SOCAR   TMEM87B   ZC3H6   ZC3H8  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110631042)_(112354279_?)del
NC_000002.11:g.(?_111388619)_(113111856_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,631,042 - 112,354,279CLINVAR
GRCh372111,388,619 - 113,111,856CLINVAR
Build 362111,105,088 - 112,828,327CLINVAR
Cytogenetic Map22q13-14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489718
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.