A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23819



Internal ID15482084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455768..18501473hg38UCSC Ensembl
Outerchr17:18454255..18501919hg38UCSC Ensembl
Innerchr17:18359082..18404787hg19UCSC Ensembl
Outerchr17:18357569..18405233hg19UCSC Ensembl
Innerchr17:18299807..18345512hg18UCSC Ensembl
Outerchr17:18298294..18345958hg18UCSC Ensembl
Innerchr17:18299807..18345512hg17UCSC Ensembl
Outerchr17:18298294..18345958hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3847665
hg1947665
hg1847665
hg1747665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA10839
Known GenesLGALS9C
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)nssv23819
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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