A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974395



Internal ID50299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135926288..135926407hg38UCSC Ensembl
chr5:135261977..135262096hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5472574
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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