A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454604



Internal ID232702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12913496..12939150hg38UCSC Ensembl
chr7:12953121..12978775hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3825655
hg1925655
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16993431
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454604
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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