A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550285



Internal ID323856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33231705..33231773hg38UCSC Ensembl
chr21:34604010..34604078hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726650
Samples
Known GenesIFNAR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550285
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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