A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890377



Internal ID167750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154468655..154468744hg38UCSC Ensembl
chr1:154441131..154441220hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427118
Supporting Variants
Samples
Known GenesIL6R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890377
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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