A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18257901



Internal ID20824941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40252727..40253094hg38UCSC Ensembl
chr2:40479867..40480234hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6554592
Supporting Variants
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18257901
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.12421


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