A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468714



Internal ID15038278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10470804..10501336hg38UCSC Ensembl
Innerchr6:10471037..10501569hg19UCSC Ensembl
Innerchr6:10579023..10609555hg18UCSC Ensembl
Innerchr6:10579023..10609555hg16UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3830533
hg1930533
hg1830533
hg1630533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437958
Supporting Variants
SamplesNA12264
Known Genes
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)nssv468714
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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