A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19358



Internal ID15830887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130938947..130941500hg38UCSC Ensembl
Outerchr9:130937178..130943587hg38UCSC Ensembl
Innerchr9:133814334..133816887hg19UCSC Ensembl
Outerchr9:133812565..133818974hg19UCSC Ensembl
Innerchr9:132804155..132806708hg18UCSC Ensembl
Outerchr9:132802386..132808795hg18UCSC Ensembl
Innerchr9:130843888..130846441hg17UCSC Ensembl
Outerchr9:130842119..130848528hg17UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg386410
hg196410
hg186410
hg176410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8572
Supporting Variants
SamplesNA12155
Known GenesFIBCD1
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)nssv19358
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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