A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728200



Internal ID151866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26481152..26481203hg38UCSC Ensembl
chr22:26877118..26877169hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433143
Supporting Variants
Samples
Known GenesHPS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728200
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003434


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