A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20161



Internal ID15844634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62030148..62031212hg38UCSC Ensembl
Outerchr9:62029782..62031710hg38UCSC Ensembl
Innerchr9:67624946..67626009hg19UCSC Ensembl
Outerchr9:67624448..67626375hg19UCSC Ensembl
Innerchr9:67214766..67215829hg18UCSC Ensembl
Outerchr9:67214268..67216195hg18UCSC Ensembl
Innerchr9:66115111..66116174hg17UCSC Ensembl
Outerchr9:66114613..66116540hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg381929
hg191928
hg181928
hg171928
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8499
Supporting Variants
SamplesNA19240
Known Genes
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)nssv20161
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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