A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249293



Internal ID20443718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1366724..1381654hg38UCSC Ensembl
chr17:1270018..1284948hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3814931
hg1914931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15831612
Samples
Known GenesYWHAE
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)nsv4249293
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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