A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710227



Internal ID133893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80287955..81045090hg38UCSC Ensembl
chr16:80321852..81078695hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38757136
hg19756844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518867
Supporting Variants
Samples
Known GenesATMIN, CDYL2, CENPN, CMC2, DYNLRB2, LOC101928276
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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