A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16044319



Internal ID19769573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49913640..49913641hg38UCSC Ensembl
chr3:49951073..49951074hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4548914
Supporting Variants
Samples
Known GenesMON1A
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)nssv16044319
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.173329


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