A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705923



Internal ID129589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53962188..53962239hg38UCSC Ensembl
chr16:53996100..53996151hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5430860
Supporting Variants
Samples
Known GenesFTO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705923
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