A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262692



Internal ID20106279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48154579..48168435hg38UCSC Ensembl
chr17:46231941..46245797hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813857
hg1913857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833943
Samples
Known GenesMIR1203, SKAP1
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 ID12345678
Accession Number(s)nsv4262692
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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