A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969653



Internal ID22744588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49122171..49131048hg38UCSC Ensembl
chr20:47738708..47747585hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg388878
hg198878
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399390
Samples
Known GenesSTAU1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969653
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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