A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198990



Internal ID20766030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6492912..6498258hg38UCSC Ensembl
chr19:6492923..6498269hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385347
hg195347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526612
Supporting Variants
Samples
Known GenesTUBB4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198990
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00087


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