A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470716



Internal ID15386422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50474595..50478701hg38UCSC Ensembl
Innerchr18:48000965..48005071hg19UCSC Ensembl
Innerchr18:46254963..46259069hg18UCSC Ensembl
Innerchr18:46252952..46257058hg16UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384107
hg194107
hg184107
hg164107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438289
Supporting Variants
SamplesNA18944
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)nssv470716
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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