A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132959



Internal ID20699999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8214060..8218461hg38UCSC Ensembl
chr5:8214173..8218574hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384402
hg194402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6376017
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132959
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