A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16033502



Internal ID19758756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14506377..14506378hg38UCSC Ensembl
chr21:15878698..15878699hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4573395
Supporting Variants
Samples
Known GenesSAMSN1
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)nssv16033502
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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