A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv469978



Internal ID15386979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:53240422..53248798hg38UCSC Ensembl
Innerchr8:54152982..54161358hg19UCSC Ensembl
Innerchr8:54315535..54323911hg18UCSC Ensembl
Innerchr8:54202942..54211318hg16UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg388377
hg198377
hg188377
hg168377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438054
Supporting Variants
SamplesNA19100
Known GenesOPRK1
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)nssv469978
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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