A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707651



Internal ID131317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30033143..30038644hg38UCSC Ensembl
chr16:30044464..30049965hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518461
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707651
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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