A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970834



Internal ID47888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138652755..138652772hg38UCSC Ensembl
chr6:138973892..138973909hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560687
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970834
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002654


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