A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15965530



Internal ID20037475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36510011..36522700hg38UCSC Ensembl
chr20:35138414..35151103hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3812690
hg1912690
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4282339
Supporting Variants
Samples
Known GenesDLGAP4
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)nssv15965530
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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