A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16263703



Internal ID20472921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183201331..183201331hg38UCSC Ensembl
chr1:183170466..183170466hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382628
hg192628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4755125
Supporting Variants
Samples
Known GenesLAMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16263703
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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