A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973091



Internal ID22748026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80759150..80759150hg38UCSC Ensembl
chr16:80793047..80793047hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372587
Samples
Known GenesCDYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973091
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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