A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208257



Internal ID20775297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197704901..197706300hg38UCSC Ensembl
chr2:198569625..198571024hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344653
Supporting Variants
Samples
Known GenesMARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208257
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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