A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195580



Internal ID20762620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24193501..24202600hg38UCSC Ensembl
chr16:24204822..24213921hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6508685
Supporting Variants
Samples
Known GenesPRKCB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195580
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00591


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