A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12983



Internal ID15839236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130001435..130005412hg38UCSC Ensembl
Outerchr3:130001097..130006088hg38UCSC Ensembl
Innerchr3:129720278..129724255hg19UCSC Ensembl
Outerchr3:129719940..129724931hg19UCSC Ensembl
Innerchr3:131202968..131206945hg18UCSC Ensembl
Outerchr3:131202630..131207621hg18UCSC Ensembl
Innerchr3:131202976..131206953hg17UCSC Ensembl
Outerchr3:131202638..131207629hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384992
hg194992
hg184992
hg174992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10322
Supporting Variants
SamplesNA18972
Known Genes
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)nssv12983
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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