A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24260



Internal ID15836800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47014694..47054273hg38UCSC Ensembl
Outerchr17:47014644..47055077hg38UCSC Ensembl
Innerchr17:45092060..45131639hg19UCSC Ensembl
Outerchr17:45092010..45132443hg19UCSC Ensembl
Innerchr17:42447059..42486638hg18UCSC Ensembl
Outerchr17:42447009..42487442hg18UCSC Ensembl
Innerchr17:42447059..42486638hg17UCSC Ensembl
Outerchr17:42447009..42487442hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3840434
hg1940434
hg1840434
hg1740434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9565
Supporting Variants
SamplesNA18564
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)nssv24260
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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