A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4764898



Internal ID20540758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78314444..78314444hg38UCSC Ensembl
chr9:80929360..80929360hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16296708
Samples
Known GenesPSAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4764898
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