A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791692



Internal ID19517086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135876744..136834734hg38UCSC Ensembl
chr9:138768590..139729186hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38957991
hg19960597
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340169
Supporting Variants
Samples
Known GenesAGPAT2, C9orf163, C9orf69, CAMSAP1, CARD9, CCDC183, CCDC183-AS1, DKFZP434A062, DNLZ, EGFL7, FAM69B, GPSM1, INPP5E, LCN10, LCN15, LCN6, LCN8, LHX3, LOC100128593, MIR126, MIR4292, MIR4673, MIR4674, MIR6722, NACC2, NOTCH1, PMPCA, QSOX2, RABL6, SDCCAG3, SEC16A, SNAPC4, SNHG7, SNORA17, SNORA43, TMEM141, UBAC1
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)nssv15791692
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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