A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916507



Internal ID11717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108741299..108742089hg38UCSC Ensembl
chr2:109357755..109358545hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449966
Supporting Variants
Samples
Known GenesRANBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916507
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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