A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16989272



Internal ID60274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148119507..148126775hg38UCSC Ensembl
chr6:148440643..148447911hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387269
hg197269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455869
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16989272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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