A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15909263



Internal ID19981203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51945370..52013727hg38UCSC Ensembl
chr6:51810168..51878525hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3868358
hg1968358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4148057
Supporting Variants
Samples
Known GenesPKHD1
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)nssv15909263
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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