A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193610



Internal ID20760650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82853809..83144031hg38UCSC Ensembl
chr17:80811685..81091800hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38290223
hg19280116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523536
Supporting Variants
Samples
Known GenesB3GNTL1, METRNL, TBCD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193610
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