A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438025



Internal ID216597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45003613..45009617hg38UCSC Ensembl
chr3:45045105..45051109hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386005
hg196005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933678
Samples
Known GenesEXOSC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438025
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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