A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457075



Internal ID235130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43378023..43378102hg38UCSC Ensembl
chr5:43378125..43378204hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967717
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457075
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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