A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4538477



Internal ID19921666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43700732..43700733hg38UCSC Ensembl
chr3:43742224..43742225hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16047537
Samples
Known GenesABHD5
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)nsv4538477
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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