A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4526282



Internal ID20256401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:5097999..5241000hg38UCSC Ensembl
chr9:5097999..5241000hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38143002
hg19143002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985502
Samples
Known GenesINSL4, INSL6, JAK2
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)nsv4526282
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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