A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27302



Internal ID15487232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46962562..47030431hg38UCSC Ensembl
Outerchr18:46916031..47108785hg38UCSC Ensembl
Innerchr18:44542525..44556802hg19UCSC Ensembl
Outerchr18:44495994..44635156hg19UCSC Ensembl
Innerchr18:42796523..42810800hg18UCSC Ensembl
Outerchr18:42749992..42889154hg18UCSC Ensembl
Innerchr18:42796523..42810800hg17UCSC Ensembl
Outerchr18:42749992..42889154hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38192755
hg19139163
hg18139163
hg17139163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9629
Supporting Variants
SamplesNA18517
Known GenesHDHD2, KATNAL2, PIAS2, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
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)nssv27302
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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