A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438049



Internal ID15041280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:38250615..38252697hg38UCSC Ensembl
Innerchr8:38108133..38110215hg19UCSC Ensembl
Innerchr8:38227290..38229372hg18UCSC Ensembl
Innerchr8:38125501..38127583hg16UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg382083
hg192083
hg182083
hg162083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv469823, nssv469822
SamplesNA11882, NA10856
Known GenesDDHD2
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)nsv438049
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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