A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800460



Internal ID19525860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35140930..35141034hg38UCSC Ensembl
chr11:35162477..35162581hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211915
Supporting Variants
Samples
Known GenesCD44
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)nssv15800460
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004149


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