A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889030



Internal ID166750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120195835..120201835hg38UCSC Ensembl
chr1:145071116..145077113hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386001
hg195998
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138599
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.404142


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