A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25458



Internal ID15492352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225485211..225486004hg38UCSC Ensembl
Outerchr1:225483711..225487104hg38UCSC Ensembl
Innerchr1:225672913..225673706hg19UCSC Ensembl
Outerchr1:225671413..225674806hg19UCSC Ensembl
Innerchr1:223739536..223740329hg18UCSC Ensembl
Outerchr1:223738036..223741429hg18UCSC Ensembl
Innerchr1:221979648..221980441hg17UCSC Ensembl
Outerchr1:221978148..221981541hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg383394
hg193394
hg183394
hg173394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8880
Supporting Variants
SamplesNA18942
Known GenesENAH
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)nssv25458
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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