A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4044444



Internal ID20171880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5206685..5466542hg38UCSC Ensembl
chrY:5074726..5334583hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38259858
hg19259858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15945394
Samples
Known GenesPCDH11Y
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)nsv4044444
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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