A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544330



Internal ID318482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37835891..37836110hg38UCSC Ensembl
chr22:38231898..38232117hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728879
Samples
Known GenesANKRD54
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544330
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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