A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4524093



Internal ID19907523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47815786..48191869hg38UCSC Ensembl
chr7:47855384..48231466hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38376084
hg19376083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980033
Samples
Known GenesABCA13, C7orf57, C7orf69, HUS1, PKD1L1, SUN3, UPP1
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)nsv4524093
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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