A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454951



Internal ID233044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:20758724..20765015hg38UCSC Ensembl
chr7:20798347..20804638hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg386292
hg196292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16992850
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454951
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