A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707818



Internal ID131484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48604561..48604646hg38UCSC Ensembl
chr16:48638472..48638557hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524021
Supporting Variants
Samples
Known GenesN4BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.02763


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