A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952089



Internal ID22727418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45651000..45651000hg38UCSC Ensembl
chr3:45692492..45692492hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428684
Samples
Known GenesLIMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952089
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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