A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753911



Internal ID20529771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170682341..170682341hg38UCSC Ensembl
chr1:170651482..170651482hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261245
Samples
Known GenesPRRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753911
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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