A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13403



Internal ID15839250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197742850..197743643hg38UCSC Ensembl
Outerchr3:197741503..197744109hg38UCSC Ensembl
Innerchr3:197469721..197470514hg19UCSC Ensembl
Outerchr3:197468374..197470980hg19UCSC Ensembl
Innerchr3:198954118..198954911hg18UCSC Ensembl
Outerchr3:198952771..198955377hg18UCSC Ensembl
Innerchr3:198958031..198958824hg17UCSC Ensembl
Outerchr3:198956684..198959290hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382607
hg192607
hg182607
hg172607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10402
Supporting Variants
SamplesNA18972
Known GenesKIAA0226
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)nssv13403
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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