A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983158



Internal ID21892501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243170310..243170719hg38UCSC Ensembl
chr1:243333612..243334021hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38410
hg19410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527786
Samples
Known GenesCEP170
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983158
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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