A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13170



Internal ID15497501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191277840..191290818hg38UCSC Ensembl
Outerchr3:191276985..191293658hg38UCSC Ensembl
Innerchr3:190995629..191008607hg19UCSC Ensembl
Outerchr3:190994774..191011447hg19UCSC Ensembl
Innerchr3:192478323..192491301hg18UCSC Ensembl
Outerchr3:192477468..192494141hg18UCSC Ensembl
Innerchr3:192478331..192491309hg17UCSC Ensembl
Outerchr3:192477476..192494149hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3816674
hg1916674
hg1816674
hg1716674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10369
Supporting Variants
SamplesNA19221
Known GenesUTS2B
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)nssv13170
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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