A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216583



Internal ID20783623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76357479..76362916hg38UCSC Ensembl
chr5:75653304..75658741hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385438
hg195438
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6408881
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216583
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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