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Variant : CV72997 (GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3) Homo sapiens

Symbol: CV72997
Name: GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3
Condition: See cases [RCV000052156]
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: AC105001.1   AF131215.3   AF131216.3   BLK   C8orf74   CRE3   FAM167A   FAM167A-AS1   LINCR-0001   LOC101929229   LOC113788244   MIR1322   MIR4286   MIR598   MSRA   MTMR9   PINX1   PRSS51   PRSS55   RP1L1   SLC35G5   SOX7   XKR6  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_10094463)_(11518412_?)dup
NC_000008.10:g.(?_9951973)_(11375921_?)dup
NC_000008.9:g.(?_9989383)_(11413330_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38810,094,463 - 11,518,412CLINVAR
GRCh3789,951,973 - 11,375,921CLINVAR
Build 3689,989,383 - 11,413,330CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619160
Created: 2014-05-13
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.