A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27038



Internal ID15844912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13375815..13413164hg38UCSC Ensembl
Outerchr2:13375422..13414810hg38UCSC Ensembl
Innerchr2:13515940..13553289hg19UCSC Ensembl
Outerchr2:13515547..13554935hg19UCSC Ensembl
Innerchr2:13433391..13470740hg18UCSC Ensembl
Outerchr2:13432998..13472386hg18UCSC Ensembl
Innerchr2:13466538..13503887hg17UCSC Ensembl
Outerchr2:13466145..13505533hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3839389
hg1939389
hg1839389
hg1739389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9391
Supporting Variants
SamplesNA19240
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)nssv27038
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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