A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4565019



Internal ID19948221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:15114051..15114052hg38UCSC Ensembl
chr10:15156050..15156051hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15991285
Samples
Known GenesNMT2
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)nsv4565019
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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