A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572340



Internal ID20302216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132165589..132167550hg38UCSC Ensembl
chr6:132486729..132488690hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381962
hg191962
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790910
Samples
Known GenesLINC01013
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)nsv4572340
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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