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Variant : CV162245 (GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3) Homo sapiens

Symbol: CV162245
Name: GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3
Condition: See cases [RCV000141034]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: COX4I2   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   HM13   HM13-AS1   ID1   LINC00028   LOC110120877   LOC116286204   LOC116286205   MIR3193   REM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_31254983)_(31660401_?)dup
NC_000020.10:g.(?_29842786)_(30248204_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382031,254,983 - 31,660,401CLINVAR
GRCh372029,842,786 - 30,248,204CLINVAR
Build 362029,306,447 - 29,711,865CLINVAR
Cytogenetic Map2020q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488562
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-29
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.