A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970



Internal ID15552991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26697205..26732396hg38UCSC Ensembl
Outerchr13:27271342..27306533hg19UCSC Ensembl
Outerchr13:26169342..26204533hg18UCSC Ensembl
Outerchr13:26169342..26204533hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385806
hg195806
hg185806
hg175806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1140
SamplesNA19240
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)nsv970
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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