A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21499



Internal ID15490642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496912..45573066hg38UCSC Ensembl
Outerchr17:45495491..45573864hg38UCSC Ensembl
Innerchr17:43574278..43650432hg19UCSC Ensembl
Outerchr17:43572857..43651230hg19UCSC Ensembl
Innerchr17:40930061..41006215hg18UCSC Ensembl
Outerchr17:40928640..41007013hg18UCSC Ensembl
Innerchr17:40930061..41006215hg17UCSC Ensembl
Outerchr17:40928640..41007013hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3878374
hg1978374
hg1878374
hg1778374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18572
Known GenesLRRC37A4P
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)nssv21499
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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