A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791247



Internal ID19516634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141081970..141086228hg38UCSC Ensembl
chr7:140781770..140786028hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg384259
hg194259
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4345697
Supporting Variants
Samples
Known GenesTMEM178B
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15791247
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.003371


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