A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908108



Internal ID22683318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:18578458..18579287hg38UCSC Ensembl
chr9:18578456..18579285hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38830
hg19830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17445014
Samples
Known GenesADAMTSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908108
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