A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488985



Internal ID266277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130002159..130011716hg38UCSC Ensembl
chr7:129641999..129651556hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg389558
hg199558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003196
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488985
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