A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518340



Internal ID19901770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22289552..23358853hg38UCSC Ensembl
chrY:24435699..25505000hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg381069302
hg191069302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944478
Samples
Known GenesBPY2, BPY2B, BPY2C, DAZ1, DAZ2, DAZ3, DAZ4, LOC100652931, PRY, PRY2, RBMY1F, RBMY1J, RBMY2FP, TTTY17A, TTTY17B, TTTY17C, TTTY4, TTTY4B, TTTY4C, TTTY5, TTTY6, TTTY6B
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)nsv4518340
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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