A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916413



Internal ID11660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104421901..104421930hg38UCSC Ensembl
chr2:105038359..105038388hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547286
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916413
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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