A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961600



Internal ID22736547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45866461..45872051hg38UCSC Ensembl
chr21:47286375..47291965hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385591
hg195591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409387
Samples
Known GenesPCBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961600
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