A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470713



Internal ID15039778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49575632..49591539hg38UCSC Ensembl
Innerchr18:47102002..47117909hg19UCSC Ensembl
Innerchr18:45356000..45371907hg18UCSC Ensembl
Innerchr18:45353989..45369896hg16UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3815908
hg1915908
hg1815908
hg1615908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438288
Supporting Variants
SamplesNA18947
Known GenesLIPG
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)nssv470713
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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