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Variant : CV43028 (GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3) Homo sapiens

Symbol: CV43028
Name: GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3
Condition: See cases [RCV000050337]
Clinical Significance: uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|no assertion criteria provided
Related Genes: FAM243B   KCNE1B   SMIM11B   SMIM34B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_7743711)_(7865746_?)dup
NC_000021.8:g.(?_35734654)_(35879759_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38217,743,711 - 7,865,746CLINVAR
GRCh372135,734,654 - 35,879,759CLINVAR
Build 362134,656,524 - 34,801,629CLINVAR
Cytogenetic Map2121p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8617599
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-24
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.