A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408045



Internal ID187375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136552484..136552535hg38UCSC Ensembl
chr6:136873622..136873673hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969198
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408045
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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