A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205397



Internal ID20772437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188241833..188249994hg38UCSC Ensembl
chr2:189106560..189114721hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg388162
hg198162
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6349777
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205397
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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