A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470403



Internal ID15040595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495853..27500838hg38UCSC Ensembl
Innerchr12:27648786..27653771hg19UCSC Ensembl
Innerchr12:27540053..27545038hg18UCSC Ensembl
Innerchr12:27540053..27545038hg16UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg384986
hg194986
hg184986
hg164986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438199
Supporting Variants
SamplesNA19143
Known GenesSMCO2
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)nssv470403
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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