A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173079



Internal ID20043174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102034243..102093243hg38UCSC Ensembl
chr10:103794000..103853000hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg3859001
hg1959001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946776
Samples
Known GenesC10orf76, HPS6
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)nsv4173079
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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