A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470711



Internal ID15386462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:48854153..48858041hg38UCSC Ensembl
Innerchr18:46380524..46384412hg19UCSC Ensembl
Innerchr18:44634522..44638410hg18UCSC Ensembl
Innerchr18:44632511..44636399hg16UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383889
hg193889
hg183889
hg163889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438287
Supporting Variants
SamplesNA18947
Known GenesCTIF
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)nssv470711
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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