A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4520641



Internal ID19904071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:101586184..102139400hg38UCSC Ensembl
chr3:101305028..101858244hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38553217
hg19553217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971343
Samples
Known GenesCEP97, LOC152225, NFKBIZ, NXPE3, PCNP, PDCL3P4, RPL24, ZBTB11, ZBTB11-AS1
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)nsv4520641
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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