A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528747



Internal ID304791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:34017440..34218771hg38UCSC Ensembl
chr16:33819907..34021238hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38201332
hg19201332
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705840
Samples
Known GenesLINC00273
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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