A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039700



Internal ID20168594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61938913..62045616hg38UCSC Ensembl
chr1:62404585..62511288hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38106704
hg19106704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961208
Samples
Known GenesINADL
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)nsv4039700
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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