A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468711



Internal ID15385165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:162498599..162524480hg38UCSC Ensembl
Innerchr5:161925605..161951486hg19UCSC Ensembl
Innerchr5:161858183..161884064hg18UCSC Ensembl
Innerchr5:161906500..161932381hg16UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3825882
hg1925882
hg1825882
hg1625882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437956
Supporting Variants
SamplesNA12801
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)nssv468711
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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