A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18257823



Internal ID20824863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203303060..203303651hg38UCSC Ensembl
chr2:204167783..204168374hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38592
hg19592
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554057
Supporting Variants
Samples
Known GenesCYP20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18257823
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00026


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