A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190398



Internal ID20757439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51340196..51341630hg38UCSC Ensembl
chr17:49417557..49418991hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381435
hg191435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519288
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190398
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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