A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218416



Internal ID20785456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116240551..116241137hg38UCSC Ensembl
chr12:116678356..116678942hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6587145
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218416
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00022


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer