A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747374



Internal ID20523393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130868223..130868353hg38UCSC Ensembl
chr3:130587067..130587197hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275334
Samples
Known GenesATP2C1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747374
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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