A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968471



Internal ID46295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77541372..77550541hg38UCSC Ensembl
chr5:76837197..76846366hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg389170
hg199170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458396
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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