A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5478



Internal ID15543993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:53656705..53668229hg38UCSC Ensembl
Outerchr13:54230840..54242364hg19UCSC Ensembl
Outerchr13:53128841..53140365hg18UCSC Ensembl
Outerchr13:53128841..53140365hg17UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3811525
hg1911525
hg1811525
hg1711525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047
Supporting Variants
SamplesNA19129
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)nssv5478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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