A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528090



Internal ID304162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:165396..184700hg38UCSC Ensembl
chr16:215395..234699hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819305
hg1919305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv187n206
Supporting Variantsnssv17705658
Samples
Known GenesHBA1, HBA2, HBM, HBQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528090
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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