A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156371



Internal ID20031020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37817988..37846347hg38UCSC Ensembl
chr8:37675506..37703865hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3828360
hg1928360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15983516
Samples
Known GenesBRF2, GPR124
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)nsv4156371
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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