A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470486



Internal ID15384809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70480946..70483236hg38UCSC Ensembl
Innerchr12:70874726..70877016hg19UCSC Ensembl
Innerchr12:69160993..69163283hg18UCSC Ensembl
Innerchr12:69160993..69163283hg16UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382291
hg192291
hg182291
hg162291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438219
Supporting Variants
SamplesNA12145
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)nssv470486
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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