A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4575398



Internal ID19958587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18289721..18289722hg38UCSC Ensembl
chr11:18311268..18311269hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983095
Samples
Known GenesHPS5
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)nsv4575398
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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