A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943397



Internal ID29582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186786760..186786895hg38UCSC Ensembl
chr3:186504549..186504684hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439998
Supporting Variants
Samples
Known GenesEIF4A2, MIR1248, SNORA81
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943397
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011239


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