A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445578



Internal ID223924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85710328..85719880hg38UCSC Ensembl
chr3:85759478..85769030hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg389553
hg199553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934473
Samples
Known GenesCADM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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