A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960060



Internal ID22735080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45931691..45932202hg38UCSC Ensembl
chr21:47351605..47352116hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393236
Samples
Known GenesPCBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960060
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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