A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707302



Internal ID130968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31505060..31506470hg38UCSC Ensembl
chr16:31516381..31517791hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515615
Supporting Variants
Samples
Known GenesC16orf58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707302
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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