A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514883



Internal ID291371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29416000..29424539hg38UCSC Ensembl
chr16:29427321..29435860hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388540
hg198540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707597
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514883
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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