A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156105



Internal ID20030821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142964425..143312168hg38UCSC Ensembl
chr7:142661512..143009261hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38347744
hg19347750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15925259
Samples
Known GenesCASP2, GSTK1, OR6V1, OR6W1P, OR9A2, PIP, TAS2R39, TAS2R40, TMEM139
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)nsv4156105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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