A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192487



Internal ID20759528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21448801..21459300hg38UCSC Ensembl
chr13:22022940..22033439hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493574
Supporting Variants
Samples
Known GenesZDHHC20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192487
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00102


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