A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704566



Internal ID128232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11353876..11353927hg38UCSC Ensembl
chr16:11447733..11447784hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5422708
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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