A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047417



Internal ID19827347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13366894..13368081hg38UCSC Ensembl
chrY:15478774..15479961hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946044
Samples
Known GenesUTY
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 ID12345678
Accession Number(s)nsv4047417
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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