A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912949



Internal ID9382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47276153..47288122hg38UCSC Ensembl
chr2:47503292..47515261hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811970
hg1911970
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554243
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912949
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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