A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518292



Internal ID294687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20956977..20962937hg38UCSC Ensembl
chr16:20968299..20974259hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg385961
hg195961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704757
Samples
Known GenesDNAH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518292
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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