A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28445



Internal ID15841208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131553482..131590504hg38UCSC Ensembl
Outerchr2:131549722..131590635hg38UCSC Ensembl
Innerchr2:132311055..132348077hg19UCSC Ensembl
Outerchr2:132307295..132348208hg19UCSC Ensembl
Innerchr2:132027525..132064547hg18UCSC Ensembl
Outerchr2:132023765..132064678hg18UCSC Ensembl
Innerchr2:132144787..132181809hg17UCSC Ensembl
Outerchr2:132141027..132181940hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3840914
hg1940914
hg1840914
hg1740914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10186
Supporting Variants
SamplesNA19007
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)nssv28445
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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