A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437958



Internal ID15041189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:10470804..10528561hg38UCSC Ensembl
Innerchr6:10471037..10528794hg19UCSC Ensembl
Innerchr6:10579023..10636780hg18UCSC Ensembl
Innerchr6:10579023..10636780hg16UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3857758
hg1957758
hg1857758
hg1657758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468714, nssv468717, nssv468715, nssv468716
SamplesNA10863, NA12264
Known GenesGCNT2
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)nsv437958
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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