A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4163066



Internal ID20035882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10341105..11001746hg38UCSC Ensembl
chr8:10198615..10859256hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38660642
hg19660642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983311
Samples
Known GenesC8orf74, MIR1322, MSRA, PINX1, PRSS55, RP1L1, SOX7, XKR6
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)nsv4163066
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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