A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4150551



Internal ID20026803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149758509..149758707hg38UCSC Ensembl
chr6:150079645..150079843hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15914497
Samples
Known GenesPCMT1
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 ID12345678
Accession Number(s)nsv4150551
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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