A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980185



Internal ID22755120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79155478..79159172hg38UCSC Ensembl
chr2:79382604..79386298hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383695
hg193695
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401421
Samples
Known GenesREG3A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980185
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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