A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193272



Internal ID20760312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48459226..48478726hg38UCSC Ensembl
chr18:45985597..46005097hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3819501
hg1919501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521673
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193272
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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