A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438393



Internal ID15388203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:22306653..22322395hg38UCSC Ensembl
Innerchr3:22348144..22363886hg19UCSC Ensembl
Innerchr3:22323148..22338890hg18UCSC Ensembl
Innerchr3:22323109..22338851hg16UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3815743
hg1915743
hg1815743
hg1615743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv471236, nssv471237
SamplesNA18912, NA18914
Known Genes
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)nsv438393
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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