A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470522



Internal ID15384546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97620967..97637201hg38UCSC Ensembl
Innerchr12:98014745..98030979hg19UCSC Ensembl
Innerchr12:96538876..96555110hg18UCSC Ensembl
Innerchr12:96517213..96533447hg16UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3816235
hg1916235
hg1816235
hg1616235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438230
Supporting Variants
SamplesNA11831
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)nssv470522
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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