A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21281



Internal ID15485423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18453992..18482841hg38UCSC Ensembl
Outerchr17:18453726..18483282hg38UCSC Ensembl
Innerchr17:18357306..18386155hg19UCSC Ensembl
Outerchr17:18357040..18386596hg19UCSC Ensembl
Innerchr17:18298031..18326880hg18UCSC Ensembl
Outerchr17:18297765..18327321hg18UCSC Ensembl
Innerchr17:18298031..18326880hg17UCSC Ensembl
Outerchr17:18297765..18327321hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3829557
hg1929557
hg1829557
hg1729557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA12872
Known GenesLGALS9C
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)nssv21281
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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