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Variant : CV154769 (GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3) Homo sapiens

Symbol: CV154769
Name: GRCh38/hg38 13q14.3(chr13:52381559-54493354)x3
Condition: See cases [RCV000134421]
Clinical Significance: uncertain significance
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CKAP2   CNMD   HNRNPA1L2   LINC00345   LINC00458   LINC00558   LINC01065   MIR1297   MIR759   OLFM4   PCDH8   SUGT1   THSD1   VPS36  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_52381559)_(54493354_?)dup
NC_000013.10:g.(?_52955694)_(55067489_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381352,381,559 - 54,493,354CLINVAR
GRCh371352,955,694 - 55,067,489CLINVAR
Build 361351,853,695 - 53,965,490CLINVAR
Cytogenetic Map1313q14.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482001
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.