A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963088



Internal ID20035029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44839982..44848572hg38UCSC Ensembl
chr1:45305654..45314244hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg388591
hg198591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044542
Supporting Variants
Samples
Known GenesPTCH2
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)nssv15963088
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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