A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6578



Internal ID15537285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112270721..112286675hg38UCSC Ensembl
Outerchr13:112925035..112940989hg19UCSC Ensembl
Outerchr13:111973036..111988990hg18UCSC Ensembl
Outerchr13:111973036..111988990hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811282
hg1911282
hg1811282
hg1711282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1190
Supporting Variants
SamplesNA12156
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)nssv6578
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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