A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15994536



Internal ID20066492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91558866..91558867hg38UCSC Ensembl
chr10:93318623..93318624hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4543102
Supporting Variants
Samples
Known GenesLOC100188947
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)nssv15994536
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.070815


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