A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520951



Internal ID297259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47223874..47452434hg38UCSC Ensembl
chr16:47257785..47486345hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38228561
hg19228561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv202n206
Supporting Variantsnssv17709360
Samples
Known GenesITFG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520951
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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