A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974753



Internal ID22749688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67982713..67982713hg38UCSC Ensembl
chr14:68449430..68449430hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386402
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974753
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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