A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15974672



Internal ID19699926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9701671..10217417hg38UCSC Ensembl
chr4:9703295..10219041hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38515747
hg19515747
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4104383
Supporting Variants
Samples
Known GenesDRD5, MIR3138, SLC2A9, WDR1
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)nssv15974672
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer