A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173572



Internal ID20043529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137141767..137724045hg38UCSC Ensembl
chr9:140036219..140618497hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38582279
hg19582279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987366
Samples
Known GenesANAPC2, ARRDC1, C9orf169, C9orf173, C9orf37, DPH7, EHMT1, ENTPD8, EXD3, FAM166A, GRIN1, LOC100129722, LRRC26, MIR3621, MIR7114, MRPL41, NDOR1, NELFB, NOXA1, NRARP, NSMF, PNPLA7, RNF208, RNF224, SLC34A3, SSNA1, TMEM203, TMEM210, TOR4A, TPRN, TUBB4B, ZMYND19
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4173572
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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