A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18231692



Internal ID20798732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128958596..128959021hg38UCSC Ensembl
chr12:129443141..129443566hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6580240
Supporting Variants
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18231692
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00011


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