A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975175



Internal ID22750110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131474531..131746447hg38UCSC Ensembl
chr12:131959076..132230992hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38271917
hg19271917
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361452
Samples
Known GenesSFSWAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975175
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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