A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15799148



Internal ID19524548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18471794..18472376hg38UCSC Ensembl
chr11:18493341..18493923hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199317
Supporting Variants
Samples
Known GenesLDHAL6A
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)nssv15799148
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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