A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8013



Internal ID15845925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:169424920..169427019hg38UCSC Ensembl
Outerchr6:169825015..169827114hg19UCSC Ensembl
Outerchr6:169566940..169569039hg18UCSC Ensembl
Outerchr6:169642647..169644746hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg382100
hg192100
hg182100
hg172100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15198
SamplesNA18564
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)nsv8013
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