A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4046922



Internal ID20173637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:9335391..9403713hg38UCSC Ensembl
chrY:9173000..9241322hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3868323
hg1968323
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786622, nssv15786620, nssv15786626, nssv15786627, nssv15786621, nssv15786629, nssv15786628, nssv15786630, nssv15786625, nssv15786624, nssv15786623
Samples
Known GenesFAM197Y2, FAM197Y5, TSPY10, TSPY3, TSPY4, TSPY8
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)nsv4046922
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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