A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208274



Internal ID20775314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200172101..200179900hg38UCSC Ensembl
chr2:201036824..201044623hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387800
hg197800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353032
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208274
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


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