A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4175660



Internal ID20391692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70798262..70816560hg38UCSC Ensembl
chr10:72558018..72576316hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3818299
hg1918299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951448
Samples
Known GenesSGPL1
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)nsv4175660
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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