A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187786



Internal ID20754826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:103803..175838hg38UCSC Ensembl
chr16:153801..225837hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872036
hg1972037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507486
Supporting Variants
Samples
Known GenesHBA2, HBM, HBZ, NPRL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187786
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00048


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