A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4564048



Internal ID19947252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27636748..27636749hg38UCSC Ensembl
chr8:27494265..27494266hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38676
hg19676
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16077952
Samples
Known GenesSCARA3
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)nsv4564048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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