A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993421



Internal ID21902764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49752506..49756688hg38UCSC Ensembl
chr3:49789939..49794121hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384183
hg194183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539130
Samples
Known GenesIP6K1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993421
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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