A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4248811



Internal ID20096721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:150208..215209hg38UCSC Ensembl
chr17:1..65000hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3865002
hg1965000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15832274
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
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)nsv4248811
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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