A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672010



Internal ID15061976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62300855..62304215hg38UCSC Ensembl
Innerchr1:62766527..62769887hg19UCSC Ensembl
Innerchr1:62539115..62542475hg18UCSC Ensembl
Innerchr1:62478548..62481908hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383361
hg193361
hg183361
hg173361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520333
Supporting Variants
Samples
Known GenesKANK4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672010
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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