A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934840



Internal ID23957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57517205..57517295hg38UCSC Ensembl
chr3:57502932..57503022hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448485
Supporting Variants
Samples
Known GenesDNAH12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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