A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18031419



Internal ID20598459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7452998..7501986hg38UCSC Ensembl
chr16:7502999..7551988hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3848989
hg1948990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496793
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18031419
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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