A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23597



Internal ID15482620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46565219..46569670hg38UCSC Ensembl
Outerchr17:46564270..46573245hg38UCSC Ensembl
Innerchr17:44642585..44647036hg19UCSC Ensembl
Outerchr17:44641636..44650611hg19UCSC Ensembl
Innerchr17:41997901..42002352hg18UCSC Ensembl
Outerchr17:41996952..42005927hg18UCSC Ensembl
Innerchr17:41997901..42002352hg17UCSC Ensembl
Outerchr17:41996952..42005927hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388976
hg198976
hg188976
hg178976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10863
Known GenesARL17A, ARL17B
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)nssv23597
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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