A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202932



Internal ID20769972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47492504..47498904hg38UCSC Ensembl
chr20:46121248..46127648hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg386401
hg196401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6551388
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202932
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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