A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4524536



Internal ID20254655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65594086..65879313hg38UCSC Ensembl
chr7:65058999..65344300hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38285228
hg19285302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981364
Samples
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, VKORC1L1
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)nsv4524536
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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