A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397369



Internal ID22455239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22343727..22904987hg38UCSC Ensembl
chr22:22698079..23247167hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38561261
hg19549089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962902
Supporting Variants
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397369
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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