A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16986248



Internal ID58258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:103820752..103857832hg38UCSC Ensembl
chr6:104268627..104305707hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3837081
hg1937081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455410
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16986248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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