A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932758



Internal ID22561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52398722..52398803hg38UCSC Ensembl
chr3:52432738..52432819hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434887
Supporting Variants
Samples
Known GenesDNAH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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