A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15968567



Internal ID19693821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74868024..74998575hg38UCSC Ensembl
chr2:75095151..75225702hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38130552
hg19130552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4055574
Supporting Variants
Samples
Known GenesHK2, POLE4
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)nssv15968567
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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