A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16070336



Internal ID19795590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130854323..130854324hg38UCSC Ensembl
chr6:131175463..131175464hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4554207
Supporting Variants
Samples
Known GenesEPB41L2
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)nssv16070336
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.094116


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