A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470308



Internal ID15039232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29189257..29204072hg38UCSC Ensembl
Innerchr2:29412123..29426938hg19UCSC Ensembl
Innerchr2:29265627..29280442hg18UCSC Ensembl
Innerchr2:29386658..29401473hg16UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3814816
hg1914816
hg1814816
hg1614816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438237
Supporting Variants
SamplesNA18579
Known GenesALK
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)nssv470308
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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