A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18250980



Internal ID20818020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42599832..42600609hg38UCSC Ensembl
chr1:43065503..43066280hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6537912
Supporting Variants
Samples
Known GenesCCDC30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18250980
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.0004


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