A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987855



Internal ID21897198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205275831..205279541hg38UCSC Ensembl
chr2:206140555..206144265hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383711
hg193711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525796
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987855
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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