A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583671



Internal ID16024394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176070797..176120968hg38UCSC Ensembl
Innerchr2:176935525..176985696hg19UCSC Ensembl
Innerchr2:176643771..176693942hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850172
hg1950172
hg1850172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7173n54
Supporting Variantsnssv925613
Samples
Known GenesEVX2, HOXD10, HOXD11, HOXD12, HOXD13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583671
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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