A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4032827



Internal ID20163770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170693837..170725762hg38UCSC Ensembl
chr6:171002925..171034850hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3831926
hg1931926
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15783309, nssv15783310, nssv15783312, nssv15783313, nssv15783311
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)nsv4032827
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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