A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383980



Internal ID22441850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23853966..23853966hg38UCSC Ensembl
chr16:23865287..23865287hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976471
Supporting Variants
Samples
Known GenesPRKCB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383980
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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