A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2056



Internal ID15541339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:112256774..112302675hg38UCSC Ensembl
Outerchr13:112911088..112956989hg19UCSC Ensembl
Outerchr13:111959089..112004990hg18UCSC Ensembl
Outerchr13:111959089..112004990hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3845902
hg1945902
hg1845902
hg1745902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1189
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)nssv2056
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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