A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531548



Internal ID307505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:5050141..5053106hg38UCSC Ensembl
chr16:5100142..5103107hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382966
hg192966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704859
Samples
Known GenesC16orf89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531548
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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