A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969965



Internal ID47297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128541167..128541250hg38UCSC Ensembl
chr6:128862312..128862395hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467467
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969965
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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