A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205493



Internal ID20772533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147181801..147188500hg38UCSC Ensembl
chr2:147939369..147946068hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339749
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205493
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00012


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