A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27034



Internal ID15842120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13392280..13412403hg38UCSC Ensembl
Outerchr2:13391876..13413164hg38UCSC Ensembl
Innerchr2:13532405..13552528hg19UCSC Ensembl
Outerchr2:13532001..13553289hg19UCSC Ensembl
Innerchr2:13449856..13469979hg18UCSC Ensembl
Outerchr2:13449452..13470740hg18UCSC Ensembl
Innerchr2:13483003..13503126hg17UCSC Ensembl
Outerchr2:13482599..13503887hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3821289
hg1921289
hg1821289
hg1721289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9391
Supporting Variants
SamplesNA19132
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)nssv27034
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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