A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24659



Internal ID15488121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46293568..46307704hg38UCSC Ensembl
Outerchr17:46292633..46308726hg38UCSC Ensembl
Innerchr17:44370934..44385070hg19UCSC Ensembl
Outerchr17:44369999..44386092hg19UCSC Ensembl
Innerchr17:41726711..41740846hg18UCSC Ensembl
Outerchr17:41725776..41741868hg18UCSC Ensembl
Innerchr17:41726711..41740846hg17UCSC Ensembl
Outerchr17:41725776..41741868hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3816094
hg1916094
hg1816093
hg1716093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18537
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)nssv24659
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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