A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966099



Internal ID19691355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22521992..22644409hg38UCSC Ensembl
chr1:22848485..22970902hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38122418
hg19122418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050732
Supporting Variants
Samples
Known GenesC1QA, C1QC, EPHA8, MIR6127, ZBTB40
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)nssv15966099
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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