A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24733



Internal ID15484665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46262594..46283247hg38UCSC Ensembl
Outerchr17:46260001..46286206hg38UCSC Ensembl
Innerchr17:44339960..44360613hg19UCSC Ensembl
Outerchr17:44337367..44363572hg19UCSC Ensembl
Innerchr17:41695737..41716390hg18UCSC Ensembl
Outerchr17:41693144..41719349hg18UCSC Ensembl
Innerchr17:41695737..41716390hg17UCSC Ensembl
Outerchr17:41693144..41719349hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3826206
hg1926206
hg1826206
hg1726206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA12740
Known Genes
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)nssv24733
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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