Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV159072 (GRCh38/hg38 2q13(chr2:110049995-110576905)x3) Homo sapiens

Symbol: CV159072
Name: GRCh38/hg38 2q13(chr2:110049995-110576905)x3
Condition: See cases [RCV000138366]
Clinical Significance: likely benign
Last Evaluated: 06/20/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LIMS4   LINC01106   MALL   MIR4267   MIR4436B1   MIR4436B2   MTLN   NPHP1   RGPD6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_110049995)_(110576905_?)dup
NC_000002.11:g.(?_110807572)_(111334482_?)dup
NC_000002.10:g.(?_110164861)_(110775582_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382110,049,995 - 110,576,905 (+)CLINVAR
GRCh372110,807,572 - 111,334,482 (+)CLINVAR
Build 362110,164,861 - 110,775,582CLINVAR
Cytogenetic Map22q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485915
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE



NHLBI Logo

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