A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042743



Internal ID20170682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22879803..23057103hg38UCSC Ensembl
chrY:25025950..25203250hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38177301
hg19177301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15991013
Samples
Known GenesBPY2, BPY2B, BPY2C, TTTY4, TTTY4B, TTTY4C
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)nsv4042743
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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