A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4546004



Internal ID19929193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121834015..121834016hg38UCSC Ensembl
chr4:122755170..122755171hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16056159
Samples
Known GenesBBS7
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 ID12345678
Accession Number(s)nsv4546004
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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