A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv465



Internal ID15544792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35380132..35414847hg38UCSC Ensembl
Outerchr5:35380234..35414949hg19UCSC Ensembl
Outerchr5:35415991..35450706hg18UCSC Ensembl
Outerchr5:35415991..35450706hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg386272
hg196272
hg186272
hg176272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4792
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)nssv465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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