A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv471000



Internal ID15040756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54466067..54486929hg38UCSC Ensembl
Innerchr2:54693204..54714066hg19UCSC Ensembl
Innerchr2:54546708..54567570hg18UCSC Ensembl
Innerchr2:54667738..54688600hg16UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3820863
hg1920863
hg1820863
hg1620863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438348
Supporting Variants
SamplesNA19192
Known GenesSPTBN1
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)nssv471000
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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