A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4515556



Internal ID19898980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:2973358..3590159hg38UCSC Ensembl
chrY:2841399..3458200hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38616802
hg19616802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15989480
Samples
Known GenesLINC00278, TGIF2LY, ZFY
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)nsv4515556
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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