A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv668000



Internal ID15057966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53902580..53904057hg38UCSC Ensembl
Innerchr1:54368253..54369730hg19UCSC Ensembl
Innerchr1:54140841..54142318hg18UCSC Ensembl
Innerchr1:54080274..54081751hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381478
hg191478
hg181478
hg171478
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516392
Supporting Variants
Samples
Known GenesDIO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv668000
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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