A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4176284



Internal ID20392148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97031801..97113935hg38UCSC Ensembl
chr10:98791558..98873692hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3882135
hg1982135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946149
Samples
Known GenesLOC100505540, SLIT1
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)nsv4176284
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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