A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18021116



Internal ID20588156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75012762..75019124hg38UCSC Ensembl
chr14:75479465..75485827hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386363
hg196363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494385
Supporting Variants
Samples
Known GenesMLH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18021116
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