A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966214



Internal ID22741150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45425140..45426074hg38UCSC Ensembl
chr21:46845055..46845989hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38935
hg19935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396097
Samples
Known GenesCOL18A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966214
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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