A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448454



Internal ID226729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:78036682..78408428hg38UCSC Ensembl
chr2:78263808..78635554hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38371747
hg19371747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv269n206
Supporting Variantsnssv16916255
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448454
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