A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427118



Internal ID206028
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 StatusM
Merged Variants
Supporting Variantsnssv16890377
Samples
Known GenesIL6R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer