A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514556



Internal ID291053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52289136..52289326hg38UCSC Ensembl
chr16:52323048..52323238hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707435
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514556
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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