A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560031



Internal ID20289914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195201184..195201185hg38UCSC Ensembl
chr3:194921913..194921914hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg385979
hg195979
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16052185
Samples
Known GenesXXYLT1
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)nsv4560031
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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