A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2795478



Internal ID21240816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24316245..24316245hg38UCSC Ensembl
chr16:24327566..24327566hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13678232
Samples
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2795478
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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