A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547941



Internal ID321736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:31724239..31724344hg38UCSC Ensembl
chr21:33096552..33096657hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734662
Samples
Known GenesSCAF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547941
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