A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21040



Internal ID15485263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46314691..46329128hg38UCSC Ensembl
Outerchr17:46314251..46330144hg38UCSC Ensembl
Innerchr17:44392057..44406494hg19UCSC Ensembl
Outerchr17:44391617..44407510hg19UCSC Ensembl
Innerchr17:41747832..41762258hg18UCSC Ensembl
Outerchr17:41747392..41763271hg18UCSC Ensembl
Innerchr17:41747832..41762258hg17UCSC Ensembl
Outerchr17:41747392..41763271hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3815894
hg1915894
hg1815880
hg1715880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA12802
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)nssv21040
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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