A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26713



Internal ID15831812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122719987..122724951hg38UCSC Ensembl
Outerchr2:122719315..122726323hg38UCSC Ensembl
Innerchr2:123477563..123482527hg19UCSC Ensembl
Outerchr2:123476891..123483899hg19UCSC Ensembl
Innerchr2:123194033..123198997hg18UCSC Ensembl
Outerchr2:123193361..123200369hg18UCSC Ensembl
Innerchr2:123193793..123198757hg17UCSC Ensembl
Outerchr2:123193121..123200129hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg387009
hg197009
hg187009
hg177009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10138
Supporting Variants
SamplesNA12802
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)nssv26713
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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