A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9459



Internal ID15847371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:75240269..75243602hg38UCSC Ensembl
Outerchr16:75274167..75277500hg19UCSC Ensembl
Outerchr16:73831668..73835001hg18UCSC Ensembl
Outerchr16:73831668..73835001hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg383334
hg193334
hg183334
hg173334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25491
SamplesNA19240
Known GenesBCAR1
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)nsv9459
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