A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352321



Internal ID22577990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131540192..131862363hg38UCSC Ensembl
chr12:132024737..132346908hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38322172
hg19322172
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5974533
Supporting Variants
Samples
Known GenesMMP17, SFSWAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352321
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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