A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937123



Internal ID25459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100875115..100875166hg38UCSC Ensembl
chr3:100593959..100594010hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563909
Supporting Variants
Samples
Known GenesABI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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