A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932617



Internal ID22459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38839327..38851828hg38UCSC Ensembl
chr3:38880818..38893319hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3812502
hg1912502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435798
Supporting Variants
Samples
Known GenesSCN11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932617
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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