A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv471232



Internal ID15384294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:16230293..16232051hg38UCSC Ensembl
Innerchr3:16271800..16273558hg19UCSC Ensembl
Innerchr3:16246804..16248562hg18UCSC Ensembl
Innerchr3:16246804..16248562hg16UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg381759
hg191759
hg181759
hg161759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438391
Supporting Variants
SamplesNA10846
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)nssv471232
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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