A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946044



Internal ID19671299
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 StatusS
Merged Variantsnsv4047417
Supporting Variants
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)nssv15946044
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00009


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