A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468526



Internal ID246322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93634000..93641000hg38UCSC Ensembl
chr6:94343718..94350718hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985453
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468526
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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