A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194713



Internal ID21333612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23853966..23853966hg38UCSC Ensembl
chr16:23865287..23865287hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946875
Supporting Variants
SamplesHG002
Known GenesPRKCB
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194713
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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