A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468261



Internal ID15386251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34786352..34802845hg38UCSC Ensembl
Innerchr4:34787974..34804467hg19UCSC Ensembl
Innerchr4:34464369..34480862hg18UCSC Ensembl
Innerchr4:34685154..34701647hg16UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3816494
hg1916494
hg1816494
hg1616494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437917
Supporting Variants
SamplesNA18860
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)nssv468261
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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