A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546482



Internal ID320428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173759416..173759416hg38UCSC Ensembl
chr5:173186419..173186419hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16977659
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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