A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462491



Internal ID15175870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154665720..154686645hg38UCSC Ensembl
Innerchr5:154045280..154066205hg19UCSC Ensembl
Innerchr5:154025473..154046398hg18UCSC Ensembl
Innerchr5:154025473..154046398hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3820926
hg1920926
hg1820926
hg1720926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538644
Samples1782681296_A
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv462491
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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