A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5901506



Internal ID22676657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241530083..241535764hg38UCSC Ensembl
chr2:242469498..242475179hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385682
hg195682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393164
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5901506
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