A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889044



Internal ID166762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145056587..145077100hg38UCSC Ensembl
chr1:143932043..143952536hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3820514
hg1920494
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139098
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005851


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