A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247671



Internal ID20095933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101406111..101810393hg38UCSC Ensembl
chr15:101946316..102350596hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38404283
hg19404281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830n166
Supporting Variantsnssv15953963
Samples
Known GenesOR4F6, PCSK6, TARSL2, TM2D3
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)nsv4247671
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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