A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9123



Internal ID15534741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49750637..49785854hg38UCSC Ensembl
Outerchr13:50324773..50359990hg19UCSC Ensembl
Outerchr13:49222774..49257991hg18UCSC Ensembl
Outerchr13:49222774..49257991hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3835218
hg1935218
hg1835218
hg1735218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038
Supporting Variants
SamplesNA12156
Known GenesKPNA3
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)nssv9123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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