A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438097



Internal ID15387908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21285390..21306319hg38UCSC Ensembl
Innerchr9:21285389..21306318hg19UCSC Ensembl
Innerchr9:21275389..21296318hg18UCSC Ensembl
Innerchr9:21275389..21296318hg16UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3820930
hg1920930
hg1820930
hg1620930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470082, nssv470081, nssv470079, nssv470078, nssv470080, nssv470076, nssv470077
SamplesNA19208, NA18912, NA18914
Known GenesIFNA5
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
Null 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)nsv438097
Frequency
Sample Size269
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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