A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706188



Internal ID129854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20483396..20540345hg38UCSC Ensembl
chr16:20494718..20551667hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3856950
hg1956950
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559891
Supporting Variants
Samples
Known GenesACSM2A, ACSM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706188
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000468


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