A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538918



Internal ID313937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39472667..39476096hg38UCSC Ensembl
chr22:39868672..39872101hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383430
hg193430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729016
Samples
Known GenesMGAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538918
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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