A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194717



Internal ID21333615
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948617
Supporting Variants
SamplesHG002
Known GenesCACNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194717
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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