A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4547588



Internal ID20277463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50458468..50458469hg38UCSC Ensembl
chr17:48535829..48535830hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38813
hg19813
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16017459
Samples
Known GenesACSF2
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)nsv4547588
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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