A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217665



Internal ID20784705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130842019..132047851hg38UCSC Ensembl
chr12:131326564..132532396hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381205833
hg191205833
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6593588
Supporting Variants
Samples
Known GenesEP400, GPR133, LOC116437, LOC338797, MMP17, PUS1, RAN, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217665
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00329


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