A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889035



Internal ID166755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120233000..120273835hg38UCSC Ensembl
chr1:144998790..145039937hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3840836
hg1941148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137961
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000183


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