A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15837960



Internal ID19910046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7685411..7716520hg38UCSC Ensembl
chr18:7685409..7716518hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3831110
hg1931110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4259158
Supporting Variants
Samples
Known GenesPTPRM
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)nssv15837960
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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