A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2503



Internal ID15540621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:709677..839304hg38UCSC Ensembl
Outerchr5:709792..839419hg19UCSC Ensembl
Outerchr5:762792..892419hg18UCSC Ensembl
Outerchr5:762792..892419hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38129628
hg19129628
hg18129628
hg17129628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4675
Supporting Variants
SamplesNA18555
Known GenesZDHHC11
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)nssv2503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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