A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260348



Internal ID20104643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70002268..70039752hg38UCSC Ensembl
chr18:67669504..67706988hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3837485
hg1937485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15841105
Samples
Known GenesRTTN
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)nsv4260348
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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