A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978701



Internal ID53177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175568816..175569554hg38UCSC Ensembl
chr5:174995819..174996557hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459600
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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