A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925230



Internal ID22700457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128198764..128201404hg38UCSC Ensembl
chr9:130961043..130963683hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382641
hg192641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17437924
Samples
Known GenesCIZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925230
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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