A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4044523



Internal ID20171927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:10594040..10620086hg38UCSC Ensembl
chrY:13104553..13130600hg19UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg3826047
hg1926048
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15786794, nssv15786761, nssv15786834, nssv15786816, nssv15786828, nssv15786821, nssv15786819, nssv15786813, nssv15786800, nssv15786773, nssv15786820, nssv15786812, nssv15786789, nssv15786808, nssv15786822, nssv15786783, nssv15786775, nssv15786787, nssv15786805, nssv15786795, nssv15786785, nssv15786774, nssv15786825, nssv15786763, nssv15786790, nssv15786809, nssv15786788, nssv15786836, nssv15786798, nssv15786829, nssv15786818, nssv15786806, nssv15786784, nssv15786777, nssv15786771, nssv15786801, nssv15786811, nssv15786807, nssv15786815, nssv15786810, nssv15786835, nssv15786803, nssv15786826, nssv15786762, nssv15786792, nssv15786772, nssv15786781, nssv15786831, nssv15786786, nssv15786782, nssv15786833, nssv15786766, nssv15786765, nssv15786817, nssv15786823, nssv15786797, nssv15786793, nssv15786767, nssv15786814, nssv15786780, nssv15786778, nssv15786796, nssv15786776, nssv15786804, nssv15786824, nssv15786827, nssv15786769, nssv15786770, nssv15786832, nssv15786802, nssv15786799, nssv15786779, nssv15786768, nssv15786791, nssv15786764, nssv15786830
Samples
Known Genes
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)nsv4044523
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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