A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6141220



Internal ID340415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54568837..54575419hg38UCSC Ensembl
chr5:53864667..53871249hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386583
hg196583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965604
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6141220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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