A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957554



Internal ID20029494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:59681182..59727356hg38UCSC Ensembl
chr15:59973381..60019555hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3846175
hg1946175
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243293
Supporting Variants
Samples
Known GenesBNIP2
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 ID32461652
Accession Number(s)nssv15957554
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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