A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940359



Internal ID22715767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71784720..71786621hg38UCSC Ensembl
chr16:71818623..71820524hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372217
Samples
Known GenesAP1G1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940359
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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