A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042770



Internal ID20170702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5116100..5497951hg38UCSC Ensembl
chrY:4984141..5365992hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38381852
hg19381852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2963n166
Supporting Variantsnssv15989496
Samples
Known GenesPCDH11Y
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)nsv4042770
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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