A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548347



Internal ID322112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129656638..129656672hg38UCSC Ensembl
chr3:129375481..129375515hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937675
Samples
Known GenesTMCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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