A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040351



Internal ID20169025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13555720..13577120hg38UCSC Ensembl
chrY:15667600..15689000hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg3821401
hg1921401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2971n166
Supporting Variantsnssv15990155
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)nsv4040351
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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