A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442710



Internal ID221130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:80349921..81012212hg38UCSC Ensembl
chr3:80399071..81061363hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg38662292
hg19662293
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936166
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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