A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468960



Internal ID15384580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:92854779..92868113hg38UCSC Ensembl
Innerchr7:92484093..92497427hg19UCSC Ensembl
Innerchr7:92322029..92335363hg18UCSC Ensembl
Innerchr7:92096122..92109456hg16UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3813335
hg1913335
hg1813335
hg1613335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437991
Supporting Variants
SamplesNA11840
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)nssv468960
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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