A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17021718



Internal ID82131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17981570..18951290hg38UCSC Ensembl
chr9:17981568..18951288hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38969721
hg19969721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474217
Supporting Variants
Samples
Known GenesADAMTSL1, FAM154A, MIR3152
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17021718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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