A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4038695



Internal ID20167892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:24887853..24982853hg38UCSC Ensembl
chrY:27034000..27129000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3895001
hg1995001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990506
Samples
Known GenesDAZ2, DAZ3, DAZ4
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)nsv4038695
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer