A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518415



Internal ID19901845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13097695..13243757hg38UCSC Ensembl
chrY:15209609..15355638hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38146063
hg19146030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2969n166
Supporting Variantsnssv15990151
Samples
Known Genes
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)nsv4518415
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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