A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438280



Internal ID15041510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36539465..36604234hg38UCSC Ensembl
Innerchr18:34119428..34184197hg19UCSC Ensembl
Innerchr18:32373426..32438195hg18UCSC Ensembl
Innerchr18:32371415..32436184hg16UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3864770
hg1964770
hg1864770
hg1664770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470699
SamplesNA18971
Known GenesFHOD3
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)nsv438280
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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