A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974472



Internal ID22749407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24336643..24336643hg38UCSC Ensembl
chr16:24347964..24347964hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388152
Samples
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974472
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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