A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571946



Internal ID19955138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27892388..27892389hg38UCSC Ensembl
chr1:28218899..28218900hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16032044
Samples
Known GenesRPA2
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)nsv4571946
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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