A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566621



Internal ID20296507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:35808917..35808918hg38UCSC Ensembl
chr9:35808914..35808915hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16085626
Samples
Known GenesNPR2, SPAG8
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 ID32461652
Accession Number(s)nsv4566621
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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