A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470781



Internal ID15385843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10501309..10522542hg38UCSC Ensembl
Innerchr21:10989915..11011148hg19UCSC Ensembl
Innerchr21:10011786..10033019hg18UCSC Ensembl
Innerchr21:10012221..10033456hg16UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3821234
hg1921234
hg1821234
hg1621236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438312
Supporting Variants
SamplesNA18562
Known GenesTPTE
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470781
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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