A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989000



Internal ID60090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149626242..149628347hg38UCSC Ensembl
chr6:149947378..149949483hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382106
hg192106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461898
Supporting Variants
Samples
Known GenesKATNA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00562


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