A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482375



Internal ID259832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45464575..45465876hg38UCSC Ensembl
chr7:45504174..45505475hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995763
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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