A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033454



Internal ID19817525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:9453714..9494891hg38UCSC Ensembl
chrY:9291322..9332500hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3841178
hg1941179
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786634, nssv15786631, nssv15786640, nssv15786641, nssv15786638, nssv15786642, nssv15786633, nssv15786639, nssv15786637, nssv15786635, nssv15786632, nssv15786636
Samples
Known GenesFAM197Y2, FAM197Y5, TSPY1, TSPY4
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)nsv4033454
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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