A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480312



Internal ID257820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74952779..74973400hg38UCSC Ensembl
chr7:74367669..74387550hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3820622
hg1919882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997813
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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