A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28733



Internal ID15828548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122719987..122724531hg38UCSC Ensembl
Outerchr2:122719315..122724951hg38UCSC Ensembl
Innerchr2:123477563..123482107hg19UCSC Ensembl
Outerchr2:123476891..123482527hg19UCSC Ensembl
Innerchr2:123194033..123198577hg18UCSC Ensembl
Outerchr2:123193361..123198997hg18UCSC Ensembl
Innerchr2:123193793..123198337hg17UCSC Ensembl
Outerchr2:123193121..123198757hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385637
hg195637
hg185637
hg175637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10138
Supporting Variants
SamplesNA10839
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)nssv28733
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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