A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12053



Internal ID15839205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131553482..131591743hg38UCSC Ensembl
Outerchr2:131549722..131591863hg38UCSC Ensembl
Innerchr2:132311055..132349316hg19UCSC Ensembl
Outerchr2:132307295..132349436hg19UCSC Ensembl
Innerchr2:132027525..132065786hg18UCSC Ensembl
Outerchr2:132023765..132065906hg18UCSC Ensembl
Innerchr2:132144787..132183048hg17UCSC Ensembl
Outerchr2:132141027..132183168hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3842142
hg1942142
hg1842142
hg1742142
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA18972
Known GenesRNU6-81P
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)nssv12053
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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