A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468258



Internal ID15385266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34786352..34823270hg38UCSC Ensembl
Innerchr4:34787974..34824892hg19UCSC Ensembl
Innerchr4:34464369..34501287hg18UCSC Ensembl
Innerchr4:34685154..34722072hg16UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3836919
hg1936919
hg1836919
hg1636919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437917
Supporting Variants
SamplesNA12815
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)nssv468258
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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