A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946163



Internal ID19671418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97833178..97881186hg38UCSC Ensembl
chr10:99592935..99640943hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3848009
hg1948009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4176684
Supporting Variants
Samples
Known GenesCRTAC1, GOLGA7B, LINC00866
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)nssv15946163
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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