A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29105



Internal ID15830788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130412217..130423912hg38UCSC Ensembl
Outerchr2:130411315..130424075hg38UCSC Ensembl
Innerchr2:131169790..131181485hg19UCSC Ensembl
Outerchr2:131168888..131181648hg19UCSC Ensembl
Innerchr2:130886260..130897955hg18UCSC Ensembl
Outerchr2:130885358..130898118hg18UCSC Ensembl
Innerchr2:130886020..130897715hg17UCSC Ensembl
Outerchr2:130885118..130897878hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3812761
hg1912761
hg1812761
hg1712761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10169
Supporting Variants
SamplesNA12155
Known GenesFAR2P2
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)nssv29105
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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