A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047568



Internal ID19827449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:6615959..6885959hg38UCSC Ensembl
chrY:6484000..6754000hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38270001
hg19270001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990081
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 ID12345678
Accession Number(s)nsv4047568
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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