A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095000



Internal ID19986652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155880595..155885856hg38UCSC Ensembl
chr3:155598384..155603645hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg385262
hg195262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883493
Samples
Known GenesGMPS
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)nsv4095000
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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