A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27054



Internal ID15493066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46325961..46332878hg38UCSC Ensembl
Outerchr17:46325018..46333781hg38UCSC Ensembl
Innerchr17:44403327..44410244hg19UCSC Ensembl
Outerchr17:44402384..44411147hg19UCSC Ensembl
Innerchr17:41759090..41766006hg18UCSC Ensembl
Outerchr17:41758147..41766909hg18UCSC Ensembl
Innerchr17:41759090..41766006hg17UCSC Ensembl
Outerchr17:41758147..41766909hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg388764
hg198764
hg188763
hg178763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18972
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)nssv27054
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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