A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4114719



Internal ID20001211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140784555..140786319hg38UCSC Ensembl
chr5:140164140..140165904hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381765
hg191765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904808
Samples
Known GenesPCDHA1
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)nsv4114719
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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