A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547497



Internal ID321340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39472638..39472665hg38UCSC Ensembl
chr22:39868643..39868670hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729015
Samples
Known GenesMGAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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