A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395545



Internal ID174968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:152366365..152366416hg38UCSC Ensembl
chr3:152084154..152084205hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939036
Samples
Known GenesMBNL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395545
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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