A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21215



Internal ID15829094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64912971..64931322hg38UCSC Ensembl
Outerchr17:64912154..64933376hg38UCSC Ensembl
Innerchr17:62909089..62927440hg19UCSC Ensembl
Outerchr17:62908272..62929494hg19UCSC Ensembl
Innerchr17:60339551..60357902hg18UCSC Ensembl
Outerchr17:60338734..60359956hg18UCSC Ensembl
Innerchr17:60339551..60357902hg17UCSC Ensembl
Outerchr17:60338734..60359956hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3821223
hg1921223
hg1821223
hg1721223
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA10847
Known GenesLRRC37A3
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)nssv21215
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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