A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23946



Internal ID15494315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18453726..18487470hg38UCSC Ensembl
Outerchr17:18453368..18487931hg38UCSC Ensembl
Innerchr17:18357040..18390784hg19UCSC Ensembl
Outerchr17:18356682..18391245hg19UCSC Ensembl
Innerchr17:18297765..18331509hg18UCSC Ensembl
Outerchr17:18297407..18331970hg18UCSC Ensembl
Innerchr17:18297765..18331509hg17UCSC Ensembl
Outerchr17:18297407..18331970hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3834564
hg1934564
hg1834564
hg1734564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19007
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)nssv23946
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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