A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15834864



Internal ID19906950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16729285..16736375hg38UCSC Ensembl
chr17:16632599..16639689hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387091
hg197091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241415
Supporting Variants
Samples
Known GenesCCDC144A
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)nssv15834864
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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