A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889483



Internal ID167077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143292587..143299943hg38UCSC Ensembl
chr1:149010143..149017493hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg387357
hg197351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138590
Supporting Variants
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003158


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