A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440528



Internal ID219030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56432928..56434277hg38UCSC Ensembl
chr3:56466956..56468305hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932782
Samples
Known GenesERC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440528
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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