A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980642



Internal ID54475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39306708..39306754hg38UCSC Ensembl
chr6:39274484..39274530hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542229
Supporting Variants
Samples
Known GenesKCNK17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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