A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553601



Internal ID326832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38786586..38786624hg38UCSC Ensembl
chr22:39182591..39182629hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728959
Samples
Known GenesDNAL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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