A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939777



Internal ID27238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128192054..128192105hg38UCSC Ensembl
chr3:127910897..127910948hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396160
Supporting Variants
Samples
Known GenesEEFSEC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939777
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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