A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18233429



Internal ID20800469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48076853..48079274hg38UCSC Ensembl
chr12:48470636..48473057hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382422
hg192422
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6593887
Supporting Variants
Samples
Known GenesSENP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18233429
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