A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470395



Internal ID15040678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495777..27499717hg38UCSC Ensembl
Innerchr12:27648710..27652650hg19UCSC Ensembl
Innerchr12:27539977..27543917hg18UCSC Ensembl
Innerchr12:27539977..27543917hg16UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg383941
hg193941
hg183941
hg163941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438199
Supporting Variants
SamplesNA19160
Known GenesSMCO2
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470395
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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