A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23523



Internal ID15489407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16813447..16821314hg38UCSC Ensembl
Outerchr17:16813017..16821869hg38UCSC Ensembl
Innerchr17:16716761..16724628hg19UCSC Ensembl
Outerchr17:16716331..16725183hg19UCSC Ensembl
Innerchr17:16657486..16665353hg18UCSC Ensembl
Outerchr17:16657056..16665908hg18UCSC Ensembl
Innerchr17:16657486..16665353hg17UCSC Ensembl
Outerchr17:16657056..16665908hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388853
hg198853
hg188853
hg178853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9498
Supporting Variants
SamplesNA18563
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)nssv23523
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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