A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438750



Internal ID217306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223754558..223755153hg38UCSC Ensembl
chr2:224619275..224619870hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38596
hg19596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926135
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438750
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