A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974017



Internal ID19699271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39897847..40109387hg38UCSC Ensembl
chr4:39899467..40111007hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38211541
hg19211541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4105475
Supporting Variants
Samples
Known GenesLOC344967, N4BP2, PDS5A
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)nssv15974017
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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