A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453627



Internal ID231743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078853..241079152hg38UCSC Ensembl
chr2:242018268..242018567hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927158
Samples
Known GenesSNED1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453627
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