A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470512



Internal ID15385889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93467396..93469213hg38UCSC Ensembl
Innerchr12:93861172..93862989hg19UCSC Ensembl
Innerchr12:92385303..92387120hg18UCSC Ensembl
Innerchr12:92363640..92365457hg16UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381818
hg191818
hg181818
hg161818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438227
Supporting Variants
SamplesNA18572
Known GenesMRPL42
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)nssv470512
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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