A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834050



Internal ID19906136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1545019..1545126hg38UCSC Ensembl
chr17:1448313..1448420hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4240379
Supporting Variants
Samples
Known GenesPITPNA
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)nssv15834050
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005721


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