A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705640



Internal ID129306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:103803..175839hg38UCSC Ensembl
chr16:153801..225838hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872037
hg1972038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144795
Supporting Variants
Samples
Known GenesHBA2, HBM, HBZ, NPRL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705640
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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