A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970305



Internal ID19695559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196498179..196679293hg38UCSC Ensembl
chr2:197362903..197544017hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38181115
hg19181115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4077887
Supporting Variants
Samples
Known GenesCCDC150, HECW2
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)nssv15970305
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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