A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13569



Internal ID15831247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17651420..17798369hg38UCSC Ensembl
Outerchr5:17650235..17799232hg38UCSC Ensembl
Innerchr5:17651529..17798478hg19UCSC Ensembl
Outerchr5:17650344..17799341hg19UCSC Ensembl
Innerchr5:17684227..17834235hg18UCSC Ensembl
Outerchr5:17683042..17835098hg18UCSC Ensembl
Innerchr5:17684227..17834235hg17UCSC Ensembl
Outerchr5:17683042..17835098hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38148998
hg19148998
hg18152057
hg17152057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA12740
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv13569
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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