A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206245



Internal ID20773285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233213309..233214625hg38UCSC Ensembl
chr2:234121955..234123271hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342098
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206245
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00864


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