A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993446



Internal ID21902789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38134643..38134829hg38UCSC Ensembl
chr3:38176134..38176320hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542164
Samples
Known GenesACAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993446
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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