A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979506



Internal ID22754441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48598015..48981493hg38UCSC Ensembl
chr20:47214553..47598030hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38383479
hg19383478
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395735
Samples
Known GenesARFGEF2, PREX1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979506
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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