A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983247



Internal ID56210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49481315..49482748hg38UCSC Ensembl
chr6:49449028..49450461hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381434
hg191434
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5462894
Supporting Variants
Samples
Known GenesCENPQ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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