A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485390



Internal ID262780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129290673..129291159hg38UCSC Ensembl
chr7:128930514..128931000hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002638
Samples
Known GenesAHCYL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485390
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