A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404546



Internal ID183897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128285884..128285935hg38UCSC Ensembl
chr3:128004727..128004778hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939781
Samples
Known GenesEEFSEC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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