A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15982029



Internal ID19707283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142136518..142311210hg38UCSC Ensembl
chr7:141836318..142011033hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38174693
hg19174716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4165710
Supporting Variants
Samples
Known GenesLOC730441, LOC93432, MOXD2P, PRSS58
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)nssv15982029
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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