A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16027590



Internal ID19752844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151629211..151629212hg38UCSC Ensembl
chr1:151601687..151601688hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566286
Supporting Variants
Samples
Known GenesSNX27
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 ID12345678
Accession Number(s)nssv16027590
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.028389


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