A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384928



Internal ID22442798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81285405..81315481hg38UCSC Ensembl
chr16:81319010..81349086hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3830077
hg1930077
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941561
Supporting Variants
Samples
Known GenesBCMO1, GAN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384928
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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