A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402647



Internal ID182016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99749373..99749381hg38UCSC Ensembl
chr3:99468217..99468225hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937434
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402647
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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