A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319221



Internal ID19838201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:20754592..20756191hg38UCSC Ensembl
chrY:22916478..22918077hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791835
Samples
Known GenesRPS4Y2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4319221
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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