A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4036106



Internal ID20166090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:24179353..24217353hg38UCSC Ensembl
chrY:26325500..26363500hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3838001
hg1938001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15944495
Samples
Known GenesCSPG4P1Y, GOLGA2P2Y, GOLGA2P3Y
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)nsv4036106
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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