A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918531



Internal ID13123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99694180..99694231hg38UCSC Ensembl
chr2:100310642..100310693hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555223
Supporting Variants
Samples
Known GenesAFF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918531
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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