A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18029435



Internal ID20596475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23903404..23907626hg38UCSC Ensembl
chr16:23914725..23918947hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384223
hg194223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6503976
Supporting Variants
Samples
Known GenesPRKCB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18029435
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00056


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