A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17531050



Internal ID21855406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183201318..183201318hg38UCSC Ensembl
chr1:183170453..183170453hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382640
hg192640
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6040894
Supporting Variants
Samples
Known GenesLAMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17531050
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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