A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395735



Internal ID22453605
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 StatusS
Merged Variantsnsv5979506
Supporting Variants
Samples
Known GenesARFGEF2, PREX1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395735
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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