A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16940603



Internal ID27780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:151428524..151428823hg38UCSC Ensembl
chr3:151146312..151146611hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446699
Supporting Variants
Samples
Known GenesMED12L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16940603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003278


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