A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138386



Internal ID20017974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16810933..16968652hg38UCSC Ensembl
chr7:16850557..17008276hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38157720
hg19157720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2317n166
Supporting Variantsnssv15918580
Samples
Known GenesAGR3
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)nsv4138386
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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