A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16071535



Internal ID20143491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:148923947..148923948hg38UCSC Ensembl
chr6:149245083..149245084hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4495737
Supporting Variants
Samples
Known GenesUST
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)nssv16071535
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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