A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970422



Internal ID22745357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136035730..136062881hg38UCSC Ensembl
chr3:135754572..135781723hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3827152
hg1927152
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397102
Samples
Known GenesPPP2R3A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970422
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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