A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728898



Internal ID152564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38017564..38034982hg38UCSC Ensembl
chr22:38413571..38430989hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3817419
hg1917419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146809
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728898
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