A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948617



Internal ID21368686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24336642..24336642hg38UCSC Ensembl
chr16:24347963..24347963hg19UCSC 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 Variantsnssv15194717
SamplesHG002
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948617
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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