A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834247



Internal ID19906333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12613169..12613983hg38UCSC Ensembl
chr17:12516486..12517300hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4236480
Supporting Variants
Samples
Known GenesLINC00670
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)nssv15834247
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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