A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969009



Internal ID19694263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61187279..61221651hg38UCSC Ensembl
chr2:61414414..61448786hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3834373
hg1934373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4053074
Supporting Variants
Samples
Known GenesAHSA2, USP34
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)nssv15969009
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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