A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042249



Internal ID19823697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:13552782..14021533hg38UCSC Ensembl
chrY:15664662..16133413hg19UCSC Ensembl
CytobandYq11.221
Allele length
AssemblyAllele length
hg38468752
hg19468752
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2970n166
Supporting Variantsnssv15990153
Samples
Known GenesTMSB4Y, VCY, VCY1B
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)nsv4042249
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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