A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555284



Internal ID328446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53351703..53351754hg38UCSC Ensembl
chr5:52647533..52647584hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965942
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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