A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438220



Internal ID15388031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:77648680..77673561hg38UCSC Ensembl
Innerchr12:78042460..78067341hg19UCSC Ensembl
Innerchr12:76566591..76591472hg18UCSC Ensembl
Innerchr12:76544928..76569809hg16UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3824882
hg1924882
hg1824882
hg1624882
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470490, nssv470491
SamplesNA19203, NA19205
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)nsv438220
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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