A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14624



Internal ID15834421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17500157..17513297hg38UCSC Ensembl
Outerchr5:17499351..17513719hg38UCSC Ensembl
Innerchr5:17500266..17513406hg19UCSC Ensembl
Outerchr5:17499460..17513828hg19UCSC Ensembl
Innerchr5:17553266..17566406hg18UCSC Ensembl
Outerchr5:17552460..17566828hg18UCSC Ensembl
Innerchr5:17553266..17566406hg17UCSC Ensembl
Outerchr5:17552460..17566828hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3814369
hg1914369
hg1814369
hg1714369
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10674
Supporting Variants
SamplesNA18517
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)nssv14624
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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