A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4566151



Internal ID19949352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71007342..71007343hg38UCSC Ensembl
chr4:71873059..71873060hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38762
hg19762
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16054071
Samples
Known GenesDCK
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)nsv4566151
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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