A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4733250



Internal ID20509178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117046417..117051817hg38UCSC Ensembl
chr5:116382113..116387513hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279403
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4733250
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