A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532879



Internal ID308791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84010943..84093762hg38UCSC Ensembl
chr16:84044548..84127367hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3882820
hg1982820
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709694
Samples
Known GenesMBTPS1, SLC38A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532879
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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