A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412210



Internal ID191514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40452909..40452909hg38UCSC Ensembl
chr3:40494400..40494400hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932304
Samples
Known GenesENTPD3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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