A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438495



Internal ID217059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22962000..22985000hg38UCSC Ensembl
chr2:23184872..23207872hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3823001
hg1923001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910949
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438495
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