A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12044



Internal ID15487418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46754569..46809003hg38UCSC Ensembl
Outerchr3:46753678..46809836hg38UCSC Ensembl
Innerchr3:46796059..46850493hg19UCSC Ensembl
Outerchr3:46795168..46851326hg19UCSC Ensembl
Innerchr3:46771063..46825497hg18UCSC Ensembl
Outerchr3:46770172..46826330hg18UCSC Ensembl
Innerchr3:46771063..46825497hg17UCSC Ensembl
Outerchr3:46770172..46826330hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3856159
hg1956159
hg1856159
hg1756159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10269
Supporting Variants
SamplesNA18517
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)nssv12044
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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