A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473809



Internal ID251491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53613689..53615787hg38UCSC Ensembl
chr6:53478487..53480585hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982593
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473809
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