A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434790



Internal ID213458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31976333..31978103hg38UCSC Ensembl
chr2:32201402..32203172hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg381771
hg191771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910763
Samples
Known GenesMEMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434790
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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