A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764659



Internal ID20540519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:510741..510741hg38UCSC Ensembl
chr7:550378..550378hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281537
Samples
Known GenesPDGFA
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764659
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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