A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15944467



Internal ID20016407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:21567314..21645314hg38UCSC Ensembl
chrY:23729200..23807200hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3878001
hg1978001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050537
Supporting Variants
Samples
Known GenesTTTY13
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)nssv15944467
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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