A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087123



Internal ID20654163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:50481747..50482067hg38UCSC Ensembl
chr2:50708885..50709205hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346242
Supporting Variants
Samples
Known GenesNRXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087123
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0439


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