A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28629



Internal ID15490744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46754569..46807555hg38UCSC Ensembl
Outerchr3:46753678..46808001hg38UCSC Ensembl
Innerchr3:46796059..46849045hg19UCSC Ensembl
Outerchr3:46795168..46849491hg19UCSC Ensembl
Innerchr3:46771063..46824049hg18UCSC Ensembl
Outerchr3:46770172..46824495hg18UCSC Ensembl
Innerchr3:46771063..46824049hg17UCSC Ensembl
Outerchr3:46770172..46824495hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3854324
hg1954324
hg1854324
hg1754324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10269
Supporting Variants
SamplesNA18853
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)nssv28629
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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