A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205299



Internal ID20772339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180112104..180120198hg38UCSC Ensembl
chr2:180976831..180984925hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg388095
hg198095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344314
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205299
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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