A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12793



Internal ID15833580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197608752..197666991hg38UCSC Ensembl
Outerchr3:197608122..197667677hg38UCSC Ensembl
Innerchr3:197335623..197393862hg19UCSC Ensembl
Outerchr3:197334993..197394548hg19UCSC Ensembl
Innerchr3:198820020..198878259hg18UCSC Ensembl
Outerchr3:198819390..198878945hg18UCSC Ensembl
Innerchr3:198823933..198882172hg17UCSC Ensembl
Outerchr3:198823303..198882858hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3859556
hg1959556
hg1859556
hg1759556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10401
Supporting Variants
SamplesNA18504
Known GenesLOC220729
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)nssv12793
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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