A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395168



Internal ID22453038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22428030..22899616hg38UCSC Ensembl
chr22:22782366..23241796hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38471587
hg19459431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948228
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)nssv17395168
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