A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142340



Internal ID20020864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:25958367..26200716hg38UCSC Ensembl
chr7:25997987..26240336hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38242350
hg19242350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2330n166
Supporting Variantsnssv15980395
Samples
Known GenesHNRNPA2B1, NFE2L3
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)nsv4142340
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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