A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035965



Internal ID19819322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28501050..28509506hg38UCSC Ensembl
chr1:28827562..28836018hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg388457
hg198457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15965858
Samples
Known GenesRCC1, SNHG3
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)nsv4035965
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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