A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv469719



Internal ID15384504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14782816..15468159hg38UCSC Ensembl
Innerchr8:14640325..15325668hg19UCSC Ensembl
Innerchr8:14684696..15370039hg18UCSC Ensembl
Innerchr8:14650691..15336034hg16UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38685344
hg19685344
hg18685344
hg16685344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438041
Supporting Variants
SamplesNA10863
Known GenesMIR383, SGCZ
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)nssv469719
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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