A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500731



Internal ID20873959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50741201..50742700hg38UCSC Ensembl
chr16:50775112..50776611hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195567
Samples
Known GenesCYLD
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500731
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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