A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4574117



Internal ID19957306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:30196283..30196284hg38UCSC Ensembl
chr17:28523301..28523302hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16017020
Samples
Known GenesSLC6A4
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)nsv4574117
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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