A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889799



Internal ID167298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144906587..145024587hg38UCSC Ensembl
chr1:143984513..144095783hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38118001
hg19111271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428267
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889799
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003341


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