A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440090



Internal ID218611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107968330..108404715hg38UCSC Ensembl
chr3:107687177..108123562hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg38436386
hg19436386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937540
Samples
Known GenesCD47, HHLA2, IFT57, MYH15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440090
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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