A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16017231



Internal ID20089187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10538345..10538346hg38UCSC Ensembl
chr17:10441662..10441663hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385972
hg195972
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568072
Supporting Variants
Samples
Known GenesMYH2
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)nssv16017231
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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