A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361452



Internal ID22587121
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 StatusS
Merged Variantsnsv5975175
Supporting Variants
Samples
Known GenesSFSWAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361452
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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