A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15825571



Internal ID19550971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67545750..67548097hg38UCSC Ensembl
chr15:67838088..67840435hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg382348
hg192348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4243448
Supporting Variants
Samples
Known GenesMAP2K5
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)nssv15825571
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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