A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4760657



Internal ID20536517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73189459..73189459hg38UCSC Ensembl
chr14:73656167..73656167hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16294508
Samples
Known GenesPSEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4760657
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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