A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487907



Internal ID265229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18843255..18858671hg38UCSC Ensembl
chr9:18843253..18858669hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg3815417
hg1915417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17020781
Samples
Known GenesADAMTSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487907
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