A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16017612



Internal ID19742866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12690200..12690201hg38UCSC Ensembl
chr17:12593517..12593518hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4019598
Supporting Variants
Samples
Known GenesLOC101928418, MYOCD
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)nssv16017612
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001614


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