A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924707



Internal ID19996647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:144692110..144705302hg38UCSC Ensembl
chr7:144389203..144402395hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3813193
hg1913193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4159210
Supporting Variants
Samples
Known GenesTPK1
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)nssv15924707
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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