A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4261084



Internal ID20105162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:58390633..58607533hg38UCSC Ensembl
chr19:58902000..59118900hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38216901
hg19216901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962691
Samples
Known GenesCENPBD1P1, CHMP2A, LOC100131691, LOC646862, MIR6807, MZF1, RPS5, SLC27A5, TRIM28, UBE2M, ZBTB45, ZNF132, ZNF324, ZNF324B, ZNF446, ZNF584
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)nsv4261084
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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