A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20530



Internal ID15485244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:33785561..33808268hg38UCSC Ensembl
Outerchr16:33784797..33808941hg38UCSC Ensembl
Innerchr16:33588028..33610735hg19UCSC Ensembl
Outerchr16:33587264..33611408hg19UCSC Ensembl
Innerchr16:33495529..33518236hg18UCSC Ensembl
Outerchr16:33494765..33518909hg18UCSC Ensembl
Innerchr16:33495529..33518236hg17UCSC Ensembl
Outerchr16:33494765..33518909hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3824145
hg1924145
hg1824145
hg1724145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9439
Supporting Variants
SamplesNA12802
Known Genes
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)nssv20530
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer