A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209174



Internal ID20776214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40536633..40537104hg38UCSC Ensembl
chr2:40763773..40764244hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345917
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209174
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