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Variant : CV164930 (GRCh38/hg38 6q13(chr6:70026943-70923391)x3) Homo sapiens

Symbol: CV164930
Name: GRCh38/hg38 6q13(chr6:70026943-70923391)x3
Condition: See cases [RCV000143243]
Clinical Significance: uncertain significance
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: B3GAT2   COL19A1   COL9A1   EVADR   FAM135A   FAM135A-AS1   SDHAF4   SMAP1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_70026943)_(70923391_?)dup
NC_000006.11:g.(?_70736835)_(71633094_?)dup
NC_000006.10:g.(?_70793556)_(71689815_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38670,026,943 - 70,923,391CLINVAR
GRCh37670,736,835 - 71,633,094CLINVAR
Build 36670,793,556 - 71,689,815CLINVAR
Cytogenetic Map66q13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490841
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.