A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16030604



Internal ID20102560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25622352..25622353hg38UCSC Ensembl
chr1:25948843..25948844hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4461330
Supporting Variants
Samples
Known GenesMAN1C1
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)nssv16030604
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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