A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970143



Internal ID47424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:137710669..137726929hg38UCSC Ensembl
chr6:138031806..138048066hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3816261
hg1916261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465606
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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