A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095205



Internal ID19986815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:163402848..163539848hg38UCSC Ensembl
chr4:164324000..164461000hg19UCSC Ensembl
Cytoband4q32.2
Allele length
AssemblyAllele length
hg38137001
hg19137001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974223
Samples
Known GenesMARCH1, TKTL2, TMA16
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)nsv4095205
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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