A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991758



Internal ID21901101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130093923..130093974hg38UCSC Ensembl
chr3:129812766..129812817hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542615
Samples
Known GenesALG1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991758
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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