A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894285



Internal ID170347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:189884587..190021150hg38UCSC Ensembl
chr1:189853717..189990280hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38136564
hg19136564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139645
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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