A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931454



Internal ID21714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29490190..29490212hg38UCSC Ensembl
chr3:29531681..29531703hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544990
Supporting Variants
Samples
Known GenesRBMS3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931454
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.011864


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