A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567214



Internal ID20297099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:33091496..33091497hg38UCSC Ensembl
chr17:31418514..31418515hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16016757
Samples
Known GenesASIC2
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 ID32461652
Accession Number(s)nsv4567214
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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