A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791520



Internal ID19863598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144936396..145032930hg38UCSC Ensembl
chr8:146161782..146258316hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3896535
hg1996535
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4343950
Supporting Variants
Samples
Known GenesTMED10P1, ZNF16, ZNF252P, ZNF252P-AS1
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 ID32461652
Accession Number(s)nssv15791520
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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