A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17391997



Internal ID22449867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33542810..33546064hg38UCSC Ensembl
chr2:33767877..33771131hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383255
hg193255
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974413
Supporting Variants
Samples
Known GenesRASGRP3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17391997
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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