A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208230



Internal ID20775270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145345453..145352003hg38UCSC Ensembl
chr2:146103021..146109571hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg386551
hg196551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6352621
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208230
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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