A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557322



Internal ID20287197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70766384..70766385hg38UCSC Ensembl
chr6:71476087..71476088hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16068044
Samples
Known GenesSMAP1
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)nsv4557322
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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