A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980030



Internal ID54075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18496392..18496413hg38UCSC Ensembl
chr6:18496623..18496644hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401952
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002966


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