A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980366



Internal ID54282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28557707..28888244hg38UCSC Ensembl
chr6:28525484..28856021hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38330538
hg19330538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5471232
Supporting Variants
Samples
Known GenesLOC401242, SCAND3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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