A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981020



Internal ID54724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13987697..13987748hg38UCSC Ensembl
chr6:13987928..13987979hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406720
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981020
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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