A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4345689



Internal ID20188293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70554036..70554761hg38UCSC Ensembl
chr6:71263739..71264464hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790811
Samples
Known GenesFAM135A
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 ID32461652
Accession Number(s)nsv4345689
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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