A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470531



Internal ID15038101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401714..99408730hg38UCSC Ensembl
Innerchr12:99795492..99802508hg19UCSC Ensembl
Innerchr12:98319623..98326639hg18UCSC Ensembl
Innerchr12:98297960..98304976hg16UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387017
hg197017
hg187017
hg167017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438232
Supporting Variants
SamplesNA12144
Known GenesANKS1B
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)nssv470531
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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