A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25227



Internal ID15491187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63651578..63652370hg38UCSC Ensembl
Outerchr20:63650345..63653792hg38UCSC Ensembl
Innerchr20:62282931..62283723hg19UCSC Ensembl
Outerchr20:62281698..62285145hg19UCSC Ensembl
Innerchr20:61753375..61754167hg18UCSC Ensembl
Outerchr20:61752142..61755589hg18UCSC Ensembl
Innerchr20:61753375..61754167hg17UCSC Ensembl
Outerchr20:61752142..61755589hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383448
hg193448
hg183448
hg173448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9827
Supporting Variants
SamplesNA18853
Known GenesSTMN3
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)nssv25227
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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