A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16987598



Internal ID59171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113536790..113550790hg38UCSC Ensembl
chr6:113857992..113871992hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3814001
hg1914001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455994
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16987598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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