A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4149380



Internal ID20372625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56370207..56427307hg38UCSC Ensembl
chr7:56437900..56495000hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3857101
hg1957101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980918
Samples
Known GenesLOC650226
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)nsv4149380
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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