A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872294



Internal ID22647233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232044937..232054368hg38UCSC Ensembl
chr1:232180683..232190114hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg389432
hg199432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17350795
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872294
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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