A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443221



Internal ID221622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199423370..199423472hg38UCSC Ensembl
chr2:200288093..200288195hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730055
Samples
Known GenesSATB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443221
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