A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24478



Internal ID15494059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46292583..46312762hg38UCSC Ensembl
Outerchr17:46291062..46312968hg38UCSC Ensembl
Innerchr17:44369949..44390128hg19UCSC Ensembl
Outerchr17:44368428..44390334hg19UCSC Ensembl
Innerchr17:41725726..41745903hg18UCSC Ensembl
Outerchr17:41724205..41746109hg18UCSC Ensembl
Innerchr17:41725726..41745903hg17UCSC Ensembl
Outerchr17:41724205..41746109hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3821907
hg1921907
hg1821905
hg1721905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18980
Known GenesARL17A, ARL17B, LRRC37A
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)nssv24478
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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