A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973938



Internal ID19699192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122561318..123338457hg38UCSC Ensembl
chr3:122280165..123057304hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38777140
hg19777140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4072560
Supporting Variants
Samples
Known GenesADCY5, DIRC2, DTX3L, HSPBAP1, LOC100129550, MIR7110, PARP14, PARP15, PARP9, PDIA5, SEC22A, SEMA5B
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)nssv15973938
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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