A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951426



Internal ID20023366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69325297..69326123hg38UCSC Ensembl
chr10:71085053..71085879hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186216
Supporting Variants
Samples
Known GenesHK1
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)nssv15951426
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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