A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5474510



Internal ID252168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:85213316..85521295hg38UCSC Ensembl
chr7:84842632..85150611hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38307980
hg19307980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999488
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5474510
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer