A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5483



Internal ID15543987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73715801..73747397hg38UCSC Ensembl
Outerchr13:74289938..74321534hg19UCSC Ensembl
Outerchr13:73187939..73219535hg18UCSC Ensembl
Outerchr13:73187939..73219535hg17UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg387668
hg197668
hg187668
hg177668
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1086
Supporting Variants
SamplesNA19129
Known GenesKLF12
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)nssv5483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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