A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26189



Internal ID15493493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:763002..764721hg38UCSC Ensembl
Outerchr2:761944..766085hg38UCSC Ensembl
Innerchr2:763002..764721hg19UCSC Ensembl
Outerchr2:761944..766085hg19UCSC Ensembl
Innerchr2:753002..754721hg18UCSC Ensembl
Outerchr2:751944..756085hg18UCSC Ensembl
Innerchr2:753002..754721hg17UCSC Ensembl
Outerchr2:751944..756085hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg384142
hg194142
hg184142
hg174142
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9258
Supporting Variants
SamplesNA18975
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)nssv26189
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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