A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438283



Internal ID15041513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36821197..36845836hg38UCSC Ensembl
Innerchr18:34401160..34425799hg19UCSC Ensembl
Innerchr18:32655158..32679797hg18UCSC Ensembl
Innerchr18:32653147..32677786hg16UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3824640
hg1924640
hg1824640
hg1624640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470702
SamplesNA18971
Known GenesKIAA1328, TPGS2
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)nsv438283
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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