A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521981



Internal ID298255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84434443..84553307hg38UCSC Ensembl
chr16:84468049..84586913hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38118865
hg19118865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708313
Samples
Known GenesATP2C2, TLDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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