A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv469994



Internal ID15040392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67077766..67081191hg38UCSC Ensembl
Innerchr8:67990001..67993426hg19UCSC Ensembl
Innerchr8:68152555..68155980hg18UCSC Ensembl
Innerchr8:68039962..68043387hg16UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383426
hg193426
hg183426
hg163426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438063
Supporting Variants
SamplesNA19120
Known GenesCSPP1
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)nssv469994
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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