A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15927822



Internal ID19999762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51883137..51890894hg38UCSC Ensembl
chr8:52795697..52803454hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg387758
hg197758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4154825
Supporting Variants
Samples
Known GenesPCMTD1
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)nssv15927822
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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