A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468899



Internal ID15385432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:13064809..13072698hg38UCSC Ensembl
Innerchr7:13104434..13112323hg19UCSC Ensembl
Innerchr7:13070959..13078848hg18UCSC Ensembl
Innerchr7:12848771..12856660hg16UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg387890
hg197890
hg187890
hg167890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437983
Supporting Variants
SamplesNA18500
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)nssv468899
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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