A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538388



Internal ID313504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39968164..39968234hg38UCSC Ensembl
chr22:40364168..40364238hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729041
Samples
Known GenesGRAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538388
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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