A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21529



Internal ID15490198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46308726..46554500hg38UCSC Ensembl
Outerchr17:46307704..46555013hg38UCSC Ensembl
Innerchr17:44386092..44631866hg19UCSC Ensembl
Outerchr17:44385070..44632379hg19UCSC Ensembl
Innerchr17:41741868..41987182hg18UCSC Ensembl
Outerchr17:41740846..41987695hg18UCSC Ensembl
Innerchr17:41741868..41987182hg17UCSC Ensembl
Outerchr17:41740846..41987695hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38247310
hg19247310
hg18246850
hg17246850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18572
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, 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)nssv21529
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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