A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485284



Internal ID262678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46836450..46846428hg38UCSC Ensembl
chr7:46876048..46886026hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg389979
hg199979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997359
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485284
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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