A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23859



Internal ID15490887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46356830..46474798hg38UCSC Ensembl
Outerchr17:46355322..46475656hg38UCSC Ensembl
Innerchr17:44434196..44552164hg19UCSC Ensembl
Outerchr17:44432688..44553022hg19UCSC Ensembl
Innerchr17:41789936..41907480hg18UCSC Ensembl
Outerchr17:41788428..41908338hg18UCSC Ensembl
Innerchr17:41789936..41907480hg17UCSC Ensembl
Outerchr17:41788428..41908338hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38120335
hg19120335
hg18119911
hg17119911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18853
Known GenesARL17A, ARL17B, NSFP1
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)nssv23859
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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