A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220752



Internal ID20787792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:26427234..26464554hg38UCSC Ensembl
chr6:26427462..26464782hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3837321
hg1937321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402898
Supporting Variants
Samples
Known GenesBTN2A1, BTN2A3P, BTN3A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220752
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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