A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16942589



Internal ID29063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185361190..185361209hg38UCSC Ensembl
chr3:185078978..185078997hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5546336
Supporting Variants
Samples
Known GenesMAP3K13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16942589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007183


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