A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18163736



Internal ID20730776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116994401..116996000hg38UCSC Ensembl
chr8:118006640..118008239hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6421724
Supporting Variants
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18163736
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00111


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