A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789135



Internal ID19514498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246002467..247250729hg38UCSC Ensembl
chr1:246165769..247414031hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381248263
hg191248263
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4567342
Supporting Variants
Samples
Known GenesAHCTF1, C1orf229, CNST, LOC149134, LOC255654, MIR3916, SCCPDH, SMYD3, TFB2M, ZNF124, ZNF669, ZNF670, ZNF670-ZNF695, ZNF695
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)nssv15789135
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000138


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