A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26650



Internal ID15493036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19101113..19108391hg38UCSC Ensembl
Outerchr17:19100737..19109796hg38UCSC Ensembl
Innerchr17:19004426..19011704hg19UCSC Ensembl
Outerchr17:19004050..19013109hg19UCSC Ensembl
Innerchr17:18945151..18952429hg18UCSC Ensembl
Outerchr17:18944775..18953834hg18UCSC Ensembl
Innerchr17:18945151..18952429hg17UCSC Ensembl
Outerchr17:18944775..18953834hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389060
hg199060
hg189060
hg179060
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18972
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)nssv26650
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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