A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv29082



Internal ID15488270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189646318..189650107hg38UCSC Ensembl
Outerchr3:189645013..189653274hg38UCSC Ensembl
Innerchr3:189364107..189367896hg19UCSC Ensembl
Outerchr3:189362802..189371063hg19UCSC Ensembl
Innerchr3:190846801..190850590hg18UCSC Ensembl
Outerchr3:190845496..190853757hg18UCSC Ensembl
Innerchr3:190846809..190850598hg17UCSC Ensembl
Outerchr3:190845504..190853765hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388262
hg198262
hg188262
hg178262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10366
Supporting Variants
SamplesNA18537
Known GenesTP63
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)nssv29082
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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