A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199433



Internal ID22349017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117316251..117316374hg38UCSC Ensembl
chr5:116651947..116652070hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14322465
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199433
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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