A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887246



Internal ID22662238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41606044..41606922hg38UCSC Ensembl
chr1:42071715..42072593hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373166
Samples
Known GenesHIVEP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887246
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