A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4255735



Internal ID20101408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45665264..45669265hg38UCSC Ensembl
chr19:46168522..46172523hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384002
hg194002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15844141
Samples
Known GenesGIPR
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)nsv4255735
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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