A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501858



Internal ID20875096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46673251..46798889hg38UCSC Ensembl
chr16:46707163..46832801hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38125639
hg19125639
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191691
Samples
Known GenesMYLK3, ORC6, VPS35
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501858
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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