A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041657



Internal ID19823286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:19452410..19477769hg38UCSC Ensembl
chrY:21614296..21639655hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3825360
hg1925360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947124
Samples
Known GenesBCORP1
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)nsv4041657
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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