A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989279



Internal ID21898622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42606056..42606184hg38UCSC Ensembl
chr2:42833196..42833324hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522313
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989279
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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