A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18028127



Internal ID20595167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19080078..19088515hg38UCSC Ensembl
chr16:19091400..19099837hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg388438
hg198438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497331
Supporting Variants
Samples
Known GenesCOQ7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18028127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00036


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