A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911875



Internal ID8676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38299713..38299713hg38UCSC Ensembl
chr2:38526855..38526855hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539049
Supporting Variants
Samples
Known GenesATL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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