A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17401421



Internal ID22459291
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 StatusS
Merged Variantsnsv5980185
Supporting Variants
Samples
Known GenesREG3A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17401421
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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