A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538961



Internal ID313976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22370083..22904991hg38UCSC Ensembl
chr22:22724451..23247171hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38534909
hg19522721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727873
Samples
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538961
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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