A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468271



Internal ID15387727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:34786352..34863665hg38UCSC Ensembl
Innerchr4:34787974..34865287hg19UCSC Ensembl
Innerchr4:34464369..34541682hg18UCSC Ensembl
Innerchr4:34685154..34762467hg16UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3877314
hg1977314
hg1877314
hg1677314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437917
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisHardy-Weinberg disequilibrium - we looked for genomic regions in which hetobs/hetexp consistency fell below some cutoff (we used cutoffs of 0.7 and 0.4).
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv468271
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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