A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26763



Internal ID15495489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452742..18500969hg38UCSC Ensembl
Outerchr17:18452207..18501208hg38UCSC Ensembl
Innerchr17:18356056..18404283hg19UCSC Ensembl
Outerchr17:18355521..18404522hg19UCSC Ensembl
Innerchr17:18296781..18345008hg18UCSC Ensembl
Outerchr17:18296246..18345247hg18UCSC Ensembl
Innerchr17:18296781..18345008hg17UCSC Ensembl
Outerchr17:18296246..18345247hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3849002
hg1949002
hg1849002
hg1749002
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19132
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)nssv26763
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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