A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992694



Internal ID21902037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194591273..194591993hg38UCSC Ensembl
chr3:194312002..194312722hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542638
Samples
Known GenesTMEM44
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992694
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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