A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4107645



Internal ID19996040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15681746..15755671hg38UCSC Ensembl
chr4:15683369..15757294hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3873926
hg1973926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973311
Samples
Known GenesBST1, FAM200B
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)nsv4107645
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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