A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470082



Internal ID15039687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:21293632..21306319hg38UCSC Ensembl
Innerchr9:21293631..21306318hg19UCSC Ensembl
Innerchr9:21283631..21296318hg18UCSC Ensembl
Innerchr9:21283631..21296318hg16UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3812688
hg1912688
hg1812688
hg1612688
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438097
Supporting Variants
SamplesNA18914
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.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470082
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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