A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971264



Internal ID48188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:145003652..145009209hg38UCSC Ensembl
chr6:145324788..145330345hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg385558
hg195558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465387
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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