A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9586



Internal ID15500812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67055470..67058405hg38UCSC Ensembl
Outerchr17:65051586..65054521hg19UCSC Ensembl
Outerchr17:62482048..62484983hg18UCSC Ensembl
Outerchr17:62482048..62484983hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382936
hg192936
hg182936
hg172936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27232
SamplesNA18517
Known GenesCACNG1
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)nsv9586
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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