A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv482



Internal ID15545111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:104162450..104197350hg38UCSC Ensembl
Outerchr5:103498151..103533051hg19UCSC Ensembl
Outerchr5:103526050..103560950hg18UCSC Ensembl
Outerchr5:103526050..103560950hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg386096
hg196096
hg186096
hg176096
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4939
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv482
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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