A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4251741



Internal ID20098643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8963440..9103085hg38UCSC Ensembl
chr17:8866757..9006402hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38139646
hg19139646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959274
Samples
Known GenesNTN1, PIK3R5
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)nsv4251741
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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