A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973642



Internal ID22748577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76029868..76029868hg38UCSC Ensembl
chr14:76496211..76496211hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376428
Samples
Known GenesIFT43
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973642
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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