A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4269726



Internal ID20457883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77125593..77131373hg38UCSC Ensembl
chr17:75121675..75127455hg19UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg385781
hg195781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836376
Samples
Known GenesSEC14L1
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)nsv4269726
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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