A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12636



Internal ID15829307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:13203982..13337607hg38UCSC Ensembl
Outerchr5:13195328..13338913hg38UCSC Ensembl
Innerchr5:13204094..13337719hg19UCSC Ensembl
Outerchr5:13195440..13339025hg19UCSC Ensembl
Innerchr5:13257094..13390719hg18UCSC Ensembl
Outerchr5:13248440..13392025hg18UCSC Ensembl
Innerchr5:13257094..13390719hg17UCSC Ensembl
Outerchr5:13248440..13392025hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38143586
hg19143586
hg18143586
hg17143586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10669
Supporting Variants
SamplesNA10863
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)nssv12636
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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