A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4143008



Internal ID20368004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:83515109..83528869hg38UCSC Ensembl
chr6:84224828..84238588hg19UCSC Ensembl
Cytoband6q14.2
Allele length
AssemblyAllele length
hg3813761
hg1913761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911371
Samples
Known GenesPRSS35
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)nsv4143008
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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