A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11507



Internal ID15489550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:191330550..191331085hg38UCSC Ensembl
Outerchr3:191328434..191331771hg38UCSC Ensembl
Innerchr3:191048339..191048874hg19UCSC Ensembl
Outerchr3:191046223..191049560hg19UCSC Ensembl
Innerchr3:192531033..192531568hg18UCSC Ensembl
Outerchr3:192528917..192532254hg18UCSC Ensembl
Innerchr3:192531041..192531576hg17UCSC Ensembl
Outerchr3:192528925..192532262hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383338
hg193338
hg183338
hg173338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10370
Supporting Variants
SamplesNA18563
Known GenesCCDC50, UTS2B
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)nssv11507
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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