A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10402



Internal ID15845365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197741503..197744109hg38UCSC Ensembl
Outerchr3:197468374..197470980hg19UCSC Ensembl
Outerchr3:198952771..198955377hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv13403
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)nsv10402
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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