A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4041603



Internal ID20169898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:24171853..24215853hg38UCSC Ensembl
chrY:26318000..26362000hg19UCSC Ensembl
CytobandYq11.23
Allele length
AssemblyAllele length
hg3844001
hg1944001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15990499
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)nsv4041603
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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