A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905980



Internal ID4785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54020282..54030392hg38UCSC Ensembl
chr1:54485955..54496065hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3810111
hg1910111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421163
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905980
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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