A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973968



Internal ID50022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134039519..134046218hg38UCSC Ensembl
chr5:133375210..133381909hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466746
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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