A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16067723



Internal ID20139679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37492336..37492337hg38UCSC Ensembl
chr6:37460112..37460113hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4491106
Supporting Variants
Samples
Known GenesCCDC167
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)nssv16067723
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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