A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329964



Internal ID19838894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:9656624..9853625hg38UCSC Ensembl
chrY:9494233..9691234hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg38197002
hg19197002
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791830
Samples
Known GenesTTTY1, TTTY1B, TTTY2, TTTY21, TTTY21B, TTTY22, 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)nsv4329964
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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