A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16955770



Internal ID37816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129795170..129795293hg38UCSC Ensembl
chr4:130716325..130716448hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469525
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16955770
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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