A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376810



Internal ID22602479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84131436..84148878hg38UCSC Ensembl
chr16:84165041..84182483hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3817443
hg1917443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929079
Supporting Variants
Samples
Known GenesDNAAF1, HSDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376810
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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