A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447717



Internal ID226010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:82967837..82971091hg38UCSC Ensembl
chr3:83016988..83020242hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg383255
hg193255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935633
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447717
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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