A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406949



Internal ID186285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171608110..171608161hg38UCSC Ensembl
chr5:171035114..171035165hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977170
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406949
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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