A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968284



Internal ID22743220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43844633..43867523hg38UCSC Ensembl
chr21:45264514..45287404hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3822891
hg1922891
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397935
Samples
Known GenesAGPAT3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968284
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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