A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433878



Internal ID212577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76014106..76014157hg38UCSC Ensembl
chr14:76480449..76480500hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697943
Samples
Known GenesIFT43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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