A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2050



Internal ID15541333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:98597905..98609861hg38UCSC Ensembl
Outerchr13:99250159..99262115hg19UCSC Ensembl
Outerchr13:98048160..98060116hg18UCSC Ensembl
Outerchr13:98048160..98060116hg17UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg3811957
hg1911957
hg1811957
hg1711957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144
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)nssv2050
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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