A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729496



Internal ID153162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45523434..45524858hg38UCSC Ensembl
chr22:45919314..45920738hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381425
hg191425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548316
Supporting Variants
Samples
Known GenesFBLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729496
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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