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Variant : CV382729 (GRCh37/hg19 8p23.1(chr8:11679159-11898980)x3) Homo sapiens

Symbol: CV382729
Name: GRCh37/hg19 8p23.1(chr8:11679159-11898980)x3
Condition: See cases [RCV000445852]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: CTSB   DEFB134   DEFB135   DEFB136   FDFT1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.10:g.(?_11679159)_(11898980_?)dup
Human AssemblyChrPosition (strand)Source
GRCh37811,679,159 - 11,898,980CLINVAR
Cytogenetic Map88p23.1CLINVAR

Additional Information

RGD Object Information
RGD ID: 12850582
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2017-10-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.