A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15781113



Internal ID19853100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120846540..120913141hg38UCSC Ensembl
chr1:147931525..147998600hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3866602
hg1967076
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4509909
Supporting Variants
Samples
Known GenesLINC01138, NBPF8, PPIAL4A, PPIAL4B
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)nssv15781113
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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