A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21005



Internal ID15482534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088388..46291062hg38UCSC Ensembl
Outerchr17:46087818..46292583hg38UCSC Ensembl
Innerchr17:44165754..44368428hg19UCSC Ensembl
Outerchr17:44165184..44369949hg19UCSC Ensembl
Innerchr17:41521572..41724205hg18UCSC Ensembl
Outerchr17:41521002..41725726hg18UCSC Ensembl
Innerchr17:41521572..41724205hg17UCSC Ensembl
Outerchr17:41521002..41725726hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38204766
hg19204766
hg18204725
hg17204725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10847
Known GenesKANSL1, KANSL1-AS1, LOC644172
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)nssv21005
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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