A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752947



Internal ID20528807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28060472..28060472hg38UCSC Ensembl
chr1:28386983..28386983hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296629
Samples
Known GenesEYA3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752947
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer