A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23300



Internal ID15491093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18487931..18487939hg38UCSC Ensembl
Outerchr17:18487470..18488674hg38UCSC Ensembl
Innerchr17:18391245..18391253hg19UCSC Ensembl
Outerchr17:18390784..18391988hg19UCSC Ensembl
Innerchr17:18331970..18331978hg18UCSC Ensembl
Outerchr17:18331509..18332713hg18UCSC Ensembl
Innerchr17:18331970..18331978hg17UCSC Ensembl
Outerchr17:18331509..18332713hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381205
hg191205
hg181205
hg171205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18853
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)nssv23300
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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