A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516763



Internal ID293211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47556682..47629000hg38UCSC Ensembl
chr16:47590593..47662911hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3872319
hg1972319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17709377
Samples
Known GenesPHKB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516763
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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