A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989285



Internal ID60280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148277734..148277771hg38UCSC Ensembl
chr6:148598870..148598907hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552116
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004995


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