A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568760



Internal ID19951955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139371248..139371249hg38UCSC Ensembl
chr5:138706937..138706938hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16064547
Samples
Known GenesSLC23A1
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)nsv4568760
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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