A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16086731



Internal ID20158687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95188001..95188002hg38UCSC Ensembl
chr9:97950283..97950284hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4545625
Supporting Variants
Samples
Known GenesFANCC
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)nssv16086731
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006684


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