A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4039355



Internal ID19821711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:22724853..22938853hg38UCSC Ensembl
chrY:24871000..25085000hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg38214001
hg19214001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944481
Samples
Known GenesTTTY17A, TTTY17B, TTTY17C, TTTY4, TTTY4B, TTTY4C
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)nsv4039355
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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