A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15994277



Internal ID19719531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:100062255..100062256hg38UCSC Ensembl
chr10:101822012..101822013hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4575962
Supporting Variants
Samples
Known GenesCPN1
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)nssv15994277
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000738


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