A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4550686



Internal ID19933875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37589820..37589821hg38UCSC Ensembl
chr9:37589817..37589818hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16085691
Samples
Known GenesTOMM5
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)nsv4550686
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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