A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4038494



Internal ID20167757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6534359..6663659hg38UCSC Ensembl
chrY:6402400..6531700hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38129301
hg19129301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2965n166
Supporting Variantsnssv15990079
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 ID32461652
Accession Number(s)nsv4038494
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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