A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705626



Internal ID129292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:10000..187300hg38UCSC Ensembl
chr16:60001..237299hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38177301
hg19177299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145849
Supporting Variants
Samples
Known GenesDDX11L10, HBA1, HBA2, HBM, HBQ1, HBZ, MIR6859-1, MIR6859-2, MPG, NPRL3, POLR3K, RHBDF1, SNRNP25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17705626
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002001


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