A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29020



Internal ID15487068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131262850..131278233hg38UCSC Ensembl
Outerchr2:131261892..131282496hg38UCSC Ensembl
Innerchr2:132020423..132035806hg19UCSC Ensembl
Outerchr2:132019465..132040069hg19UCSC Ensembl
Innerchr2:131736893..131752276hg18UCSC Ensembl
Outerchr2:131735935..131756539hg18UCSC Ensembl
Innerchr2:131854155..131869538hg17UCSC Ensembl
Outerchr2:131853197..131873801hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3820605
hg1920605
hg1820605
hg1720605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18504
Known GenesLOC440910, POTEE
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)nssv29020
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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