A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891114



Internal ID168257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149814587..149886587hg38UCSC Ensembl
chr1:149786142..149858137hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3872001
hg1971996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139015
Supporting Variants
Samples
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H2BE, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001038


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