A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19208



Internal ID15830865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40305719..40311924hg38UCSC Ensembl
Outerchr9:40298061..40321014hg38UCSC Ensembl
Innerchr9:43044960..43051166hg19UCSC Ensembl
Outerchr9:43035869..43058824hg19UCSC Ensembl
Innerchr9:43034956..43041162hg18UCSC Ensembl
Outerchr9:43025865..43048820hg18UCSC Ensembl
Innerchr9:45601015..45607220hg17UCSC Ensembl
Outerchr9:45593357..45616310hg17UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3822954
hg1922956
hg1822956
hg1722954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8486
Supporting Variants
SamplesNA12155
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)nssv19208
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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