A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972347



Internal ID19697601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15553878..15578745hg38UCSC Ensembl
chr3:15595385..15620252hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3824868
hg1924868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074256
Supporting Variants
Samples
Known GenesHACL1
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)nssv15972347
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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