A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9129



Internal ID15534735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:56086818..56120946hg38UCSC Ensembl
Outerchr13:56660952..56695080hg19UCSC Ensembl
Outerchr13:55558953..55593081hg18UCSC Ensembl
Outerchr13:55558953..55593081hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg385310
hg195310
hg185310
hg175310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1052
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)nssv9129
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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