A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939127



Internal ID19664381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128193621..128198715hg38UCSC Ensembl
chr9:130955900..130960994hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385095
hg195095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4178524
Supporting Variants
Samples
Known GenesCIZ1
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)nssv15939127
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000102


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