A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5016



Internal ID15203097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:135471517..135516610hg38UCSC Ensembl
Outerchr5:134807207..134852300hg19UCSC Ensembl
Outerchr5:134835106..134880199hg18UCSC Ensembl
Outerchr5:134835106..134880199hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3845094
hg1945094
hg1845094
hg1745094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8154
SamplesNA12156
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)nsv5016
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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