A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470747



Internal ID15386499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40848628..40868128hg38UCSC Ensembl
Innerchr19:41354533..41374033hg19UCSC Ensembl
Innerchr19:46046373..46065873hg18UCSC Ensembl
Innerchr19:46046373..46065873hg16UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3819501
hg1919501
hg1819501
hg1619501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438302
Supporting Variants
SamplesNA18952
Known GenesCYP2A6
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)nssv470747
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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