A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544618



Internal ID318748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186486573..186486621hg38UCSC Ensembl
chr3:186204362..186204410hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942622
Samples
Known GenesLOC253573
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544618
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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