A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563250



Internal ID20293139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109066397..109066398hg38UCSC Ensembl
chr1:109609019..109609020hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16026290
Samples
Known GenesTAF13
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)nsv4563250
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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