A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438346



Internal ID15041576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38976422..38985821hg38UCSC Ensembl
Innerchr22:39372427..39381826hg19UCSC Ensembl
Innerchr22:37702373..37711772hg18UCSC Ensembl
Innerchr22:37615466..37624865hg16UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg389400
hg199400
hg189400
hg169400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470961, nssv470964, nssv470965, nssv470966
SamplesNA10839, NA12864, NA12873, NA12006
Known GenesAPOBEC3A_B, APOBEC3B
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)nsv438346
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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