A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16022999



Internal ID19748253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52939044..52939045hg38UCSC Ensembl
chr1:53404716..53404717hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563204
Supporting Variants
Samples
Known GenesSCP2
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)nssv16022999
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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