A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755125



Internal ID20530985
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 StatusM
Merged Variants
Supporting Variantsnssv16263703
Samples
Known GenesLAMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755125
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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