A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5991123



Internal ID21900466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128731767..128731914hg38UCSC Ensembl
chr3:128450610..128450757hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551680
Samples
Known GenesRAB7A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5991123
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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