A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991082



Internal ID21900425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119501505..119501934hg38UCSC Ensembl
chr3:119220352..119220781hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17540552
Samples
Known GenesTIMMDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991082
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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