A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468247



Internal ID15384566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34778620..34823270hg38UCSC Ensembl
Innerchr4:34780242..34824892hg19UCSC Ensembl
Innerchr4:34456637..34501287hg18UCSC Ensembl
Innerchr4:34677422..34722072hg16UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3844651
hg1944651
hg1844651
hg1644651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437917
Supporting Variants
SamplesNA11832
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)nssv468247
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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