A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183693



Internal ID20750733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:61459201..61467200hg38UCSC Ensembl
chr13:62033334..62041333hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6489567
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183693
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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