A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890374



Internal ID167749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154417650..154421985hg38UCSC Ensembl
chr1:154390126..154394461hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420398
Supporting Variants
Samples
Known GenesIL6R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890374
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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