A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4188943



Internal ID20054463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129618928..129970193hg38UCSC Ensembl
chr9:132381207..132732472hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38351266
hg19351266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985972
Samples
Known GenesASB6, C9orf50, C9orf78, FNBP1, MIR6855, NTMT1, PRRX2, PTGES, TOR1A, TOR1B, USP20
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4188943
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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