A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968549



Internal ID19693803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73620835..73681084hg38UCSC Ensembl
chr2:73847962..73908211hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860250
hg1960250
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071601
Supporting Variants
Samples
Known GenesALMS1P, NAT8
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)nssv15968549
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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