A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153322



Internal ID20028802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139350954..139358254hg38UCSC Ensembl
chr7:139035700..139043000hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg387301
hg197301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15924545
Samples
Known GenesC7orf55-LUC7L2, LUC7L2
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)nsv4153322
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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