A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4034742



Internal ID20165121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6871959..6885459hg38UCSC Ensembl
chrY:6740000..6753500hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3813501
hg1913501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990088
Samples
Known GenesAMELY
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)nsv4034742
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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