A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438282



Internal ID15041512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36675153..36676705hg38UCSC Ensembl
Innerchr18:34255116..34256668hg19UCSC Ensembl
Innerchr18:32509114..32510666hg18UCSC Ensembl
Innerchr18:32507103..32508655hg16UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg381553
hg191553
hg181553
hg161553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470701, nssv470700
SamplesNA18503, NA18505
Known GenesFHOD3
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nsv438282
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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