A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791829



Internal ID19517226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:4369236..6885330hg38UCSC Ensembl
chrY:4237277..6753371hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg382516095
hg192516095
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4313675
Supporting Variants
Samples
Known GenesAMELY, PCDH11Y, TSPY2, TTTY1, TTTY1B, TTTY2, TTTY21, TTTY21B, TTTY23, TTTY23B, TTTY2B, TTTY7, TTTY7B, TTTY8, TTTY8B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791829
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00009


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