A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547475



Internal ID20920676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44317350..44334797hg38UCSC Ensembl
chr21:45737233..45754680hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3817448
hg1917448
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204131
Samples
Known GenesC21orf2, PFKL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547475
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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