A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4128762



Internal ID20357791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8564852..8611184hg38UCSC Ensembl
chr6:8565085..8611417hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3846333
hg1946333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978245
Samples
Known GenesLOC100506207
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)nsv4128762
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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