A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438281



Internal ID15388091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30184036..30195428hg38UCSC Ensembl
Innerchr2:30406902..30418294hg19UCSC Ensembl
Innerchr2:30260406..30271798hg18UCSC Ensembl
Innerchr2:30381437..30392829hg16UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3811393
hg1911393
hg1811393
hg1611393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470352
SamplesNA18579
Known Genes
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)nsv438281
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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