A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15951423



Internal ID19676677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69264305..69277914hg38UCSC Ensembl
chr10:71024061..71037670hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3813610
hg1913610
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4185173
Supporting Variants
Samples
Known GenesHK1, HKDC1
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 ID12345678
Accession Number(s)nssv15951423
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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