A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535509



Internal ID311136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133971099..133971099hg38UCSC Ensembl
chr3:133689943..133689943hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937792
Samples
Known GenesSLCO2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535509
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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