A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834178



Internal ID19906264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11291226..11292909hg38UCSC Ensembl
chr17:11194543..11196226hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4247096
Supporting Variants
Samples
Known GenesSHISA6
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)nssv15834178
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001245


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