A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv478



Internal ID15545142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75115954..75139701hg38UCSC Ensembl
Outerchr5:74411779..74435526hg19UCSC Ensembl
Outerchr5:74447535..74471282hg18UCSC Ensembl
Outerchr5:74447535..74471282hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386197
hg196197
hg186197
hg176197
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4879
Supporting Variants
SamplesNA19240
Known GenesANKRD31
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)nssv478
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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