A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990128



Internal ID20062071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:9607728..9811060hg38UCSC Ensembl
chrY:9445337..9648669hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38203333
hg19203333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050921
Supporting Variants
Samples
Known GenesRBMY3AP, TTTY1, TTTY1B, TTTY2, TTTY21, TTTY21B, TTTY22, TTTY2B, TTTY7, TTTY7B, TTTY8, TTTY8B
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)nssv15990128
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001532


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