A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453421



Internal ID231543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169863511..169918643hg38UCSC Ensembl
chr3:169581299..169636431hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3855133
hg1955133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942449
Samples
Known GenesLRRC31, SAMD7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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