A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727715



Internal ID151381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20572507..20574494hg38UCSC Ensembl
chr22:20926794..20928781hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535430
Supporting Variants
Samples
Known GenesMED15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727715
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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