A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143970



Internal ID20022005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16787647..16977544hg38UCSC Ensembl
chr7:16827271..17017168hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38189898
hg19189898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2317n166
Supporting Variantsnssv15918577
Samples
Known GenesAGR2, AGR3
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)nsv4143970
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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