A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931378



Internal ID21667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30100917..30100968hg38UCSC Ensembl
chr3:30142408..30142459hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411285
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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