A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936124



Internal ID24797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77562561..77562612hg38UCSC Ensembl
chr3:77611712..77611763hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396254
Supporting Variants
Samples
Known GenesROBO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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