A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700049



Internal ID15436701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82844130..82865435hg38UCSC Ensembl
Innerchr1:83309813..83331118hg19UCSC Ensembl
Innerchr1:83082401..83103706hg18UCSC Ensembl
Innerchr1:83021834..83043139hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3821306
hg1921306
hg1821306
hg1721306
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524169
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700049
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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