A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134699



Internal ID20015301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65200715..65706419hg38UCSC Ensembl
chr7:64661093..65171408hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38505705
hg19510316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2365n166
Supporting Variantsnssv15921399
Samples
Known GenesINTS4L2, LOC441242, ZNF92
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)nsv4134699
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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