A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367263



Internal ID22592932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132776497..132931381hg38UCSC Ensembl
chr12:133353083..133507967hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38154885
hg19154885
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976251
Supporting Variants
Samples
Known GenesCHFR, GOLGA3, ZNF605
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367263
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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