A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948125



Internal ID22723615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183201318..183201318hg38UCSC Ensembl
chr1:183170453..183170453hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350410
Samples
Known GenesLAMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948125
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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