A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13525



Internal ID15840412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99523170..99523989hg38UCSC Ensembl
Outerchr5:99522552..99524190hg38UCSC Ensembl
Innerchr5:98858874..98859693hg19UCSC Ensembl
Outerchr5:98858256..98859894hg19UCSC Ensembl
Innerchr5:98886773..98887592hg18UCSC Ensembl
Outerchr5:98886155..98887793hg18UCSC Ensembl
Innerchr5:98886773..98887592hg17UCSC Ensembl
Outerchr5:98886155..98887793hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381639
hg191639
hg181639
hg171639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10726
Supporting Variants
SamplesNA18980
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)nssv13525
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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