A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27920



Internal ID15830934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13485923..13495035hg38UCSC Ensembl
Outerchr2:13485501..13495456hg38UCSC Ensembl
Innerchr2:13626048..13635160hg19UCSC Ensembl
Outerchr2:13625626..13635581hg19UCSC Ensembl
Innerchr2:13543499..13552611hg18UCSC Ensembl
Outerchr2:13543077..13553032hg18UCSC Ensembl
Innerchr2:13576646..13585758hg17UCSC Ensembl
Outerchr2:13576224..13586179hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg389956
hg199956
hg189956
hg179956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9402
Supporting Variants
SamplesNA12155
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)nssv27920
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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