A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440291



Internal ID218804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131362396..131382222hg38UCSC Ensembl
chr3:131081240..131101066hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3819827
hg1919827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939848
Samples
Known GenesLOC339874, NUDT16, NUDT16P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440291
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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