A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4556305



Internal ID19939494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218801994..218801995hg38UCSC Ensembl
chr2:219666717..219666718hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16042437
Samples
Known GenesCYP27A1
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)nsv4556305
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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