A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082519



Internal ID21482225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53040919..53040997hg38UCSC Ensembl
chr16:53074831..53074909hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5596704
Supporting Variants
SamplesHG03732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082519
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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