A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703583



Internal ID15093549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176072106..176120968hg38UCSC Ensembl
Innerchr2:176936834..176985696hg19UCSC Ensembl
Innerchr2:176645080..176693942hg18UCSC Ensembl
Innerchr2:176762341..176811203hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3848863
hg1948863
hg1848863
hg1748863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527187
Supporting Variants
Samples
Known GenesEVX2, HOXD10, HOXD11, HOXD12, HOXD13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703583
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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