A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13050



Internal ID15844321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:177665761..177671468hg38UCSC Ensembl
Outerchr3:177659242..177672281hg38UCSC Ensembl
Innerchr3:177383549..177389256hg19UCSC Ensembl
Outerchr3:177377030..177390069hg19UCSC Ensembl
Innerchr3:178866243..178871950hg18UCSC Ensembl
Outerchr3:178859724..178872763hg18UCSC Ensembl
Innerchr3:178866251..178871958hg17UCSC Ensembl
Outerchr3:178859732..178872771hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3813040
hg1913040
hg1813040
hg1713040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10364
Supporting Variants
SamplesNA19221
Known GenesLINC00578
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)nssv13050
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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