A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9511



Internal ID15847423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20776519..20785486hg38UCSC Ensembl
Outerchr17:20679832..20688799hg19UCSC Ensembl
Outerchr17:20620424..20629391hg18UCSC Ensembl
Outerchr17:20620424..20629391hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388968
hg198968
hg188968
hg178968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23900
SamplesNA10839
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)nsv9511
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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