A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706185



Internal ID129851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20476715..20547118hg38UCSC Ensembl
chr16:20488037..20558440hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3870404
hg1970404
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554818
Supporting Variants
Samples
Known GenesACSM2A, ACSM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706185
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000937


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