A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226474



Internal ID20793514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23577438..23577851hg38UCSC Ensembl
chr12:23730372..23730785hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6584661
Supporting Variants
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226474
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00055


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