A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10770



Internal ID15499047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:172109817..172115409hg38UCSC Ensembl
Outerchr5:171536821..171542413hg19UCSC Ensembl
Outerchr5:171469426..171475018hg18UCSC Ensembl
Outerchr5:171469426..171475018hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385593
hg195593
hg185593
hg175593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15493
SamplesNA18504
Known GenesSTK10
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)nsv10770
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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