A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2902



Internal ID15541655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48096693..48108911hg38UCSC Ensembl
Outerchr13:48670829..48683047hg19UCSC Ensembl
Outerchr13:47568830..47581048hg18UCSC Ensembl
Outerchr13:47568830..47581048hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385878
hg195878
hg185878
hg175878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030
Supporting Variants
SamplesNA18555
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)nssv2902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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