A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964144



Internal ID20036085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222471758..222571658hg38UCSC Ensembl
chr1:222645100..222745000hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3899901
hg1999901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4066031
Supporting Variants
Samples
Known GenesHHIPL2, TAF1A
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 ID32461652
Accession Number(s)nssv15964144
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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