A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968407



Internal ID46253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76759331..76775403hg38UCSC Ensembl
chr5:76055156..76071228hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3816073
hg1916073
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463361
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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