A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15995657



Internal ID20067613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120902665..120902666hg38UCSC Ensembl
chr10:122662177..122662178hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4567602
Supporting Variants
Samples
Known GenesMIR5694, WDR11
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)nssv15995657
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.096317


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