A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247328



Internal ID20095695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8278673..8303809hg38UCSC Ensembl
chr17:8181991..8207127hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3825137
hg1925137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834071
Samples
Known GenesRANGRF, SLC25A35
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)nsv4247328
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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