A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4161534



Internal ID20381452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102356055..102381553hg38UCSC Ensembl
chr7:101996500..102022000hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3825499
hg1925501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982527
Samples
Known GenesLOC100289561, LOC100630923, SPDYE6
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)nsv4161534
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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