A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24547



Internal ID15488204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45496912..45500356hg38UCSC Ensembl
Outerchr17:45495491..45500416hg38UCSC Ensembl
Innerchr17:43574278..43577722hg19UCSC Ensembl
Outerchr17:43572857..43577782hg19UCSC Ensembl
Innerchr17:40930061..40933505hg18UCSC Ensembl
Outerchr17:40928640..40933565hg18UCSC Ensembl
Innerchr17:40930061..40933505hg17UCSC Ensembl
Outerchr17:40928640..40933565hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384926
hg194926
hg184926
hg174926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18537
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)nssv24547
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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