A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791009



Internal ID19516392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:15843588..17558373hg38UCSC Ensembl
chr7:15883213..17597997hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381714786
hg191714785
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342557
Supporting Variants
Samples
Known GenesAGR2, AGR3, AHR, ANKMY2, BZW2, ISPD, ISPD-AS1, LRRC72, SOSTDC1, TSPAN13
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)nssv15791009
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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