A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25285



Internal ID15496680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46574753..46676830hg38UCSC Ensembl
Outerchr17:46573245..46677847hg38UCSC Ensembl
Innerchr17:44652119..44754196hg19UCSC Ensembl
Outerchr17:44650611..44755213hg19UCSC Ensembl
Innerchr17:42007435..42109375hg18UCSC Ensembl
Outerchr17:42005927..42110392hg18UCSC Ensembl
Innerchr17:42007435..42109375hg17UCSC Ensembl
Outerchr17:42005927..42110392hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38104603
hg19104603
hg18104466
hg17104466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA19173
Known GenesARL17A, ARL17B, NSF, 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)nssv25285
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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