A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232802



Internal ID20799843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111475221..111475508hg38UCSC Ensembl
chr12:111913025..111913312hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6583455
Supporting Variants
Samples
Known GenesATXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232802
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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