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

Variant : CV72482 (GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3) Homo sapiens

Symbol: CV72482
Name: GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3
Condition: See cases [RCV000051627]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AL353784.1   MIR548F1   PCDH15  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_53477144)_(54916701_?)dup
NC_000010.10:g.(?_55236904)_(56676461_?)dup
NC_000010.9:g.(?_54906910)_(56346467_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381053,477,144 - 54,916,701CLINVAR
GRCh371055,236,904 - 56,676,461CLINVAR
Build 361054,906,910 - 56,346,467CLINVAR
Cytogenetic Map1010q21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618642
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



NHLBI Logo

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