A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035191



Internal ID20165438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5431643..5436306hg38UCSC Ensembl
chrY:5299684..5304347hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg384664
hg194664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15945398
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)nsv4035191
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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