A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12570



Internal ID15843930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46383160..46398568hg38UCSC Ensembl
Outerchr3:46381639..46399222hg38UCSC Ensembl
Innerchr3:46424651..46440059hg19UCSC Ensembl
Outerchr3:46423130..46440713hg19UCSC Ensembl
Innerchr3:46399655..46415063hg18UCSC Ensembl
Outerchr3:46398134..46415717hg18UCSC Ensembl
Innerchr3:46399655..46415063hg17UCSC Ensembl
Outerchr3:46398134..46415717hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3817584
hg1917584
hg1817584
hg1717584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10267
Supporting Variants
SamplesNA19221
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)nssv12570
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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