A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562551



Internal ID19945753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:74946985..74946986hg38UCSC Ensembl
chr9:77561901..77561902hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16085490
Samples
Known GenesC9orf40
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)nsv4562551
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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