A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16080954



Internal ID19806221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98224448..98224449hg38UCSC Ensembl
chr8:99236676..99236677hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4550639
Supporting Variants
Samples
Known GenesNIPAL2
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)nssv16080954
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003092


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