A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964012



Internal ID19689266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179472634..179790083hg38UCSC Ensembl
chr1:179441769..179759218hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38317450
hg19317450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4057906
Supporting Variants
Samples
Known GenesAXDND1, FAM163A, NPHS2, TDRD5
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)nssv15964012
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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