A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055587



Internal ID19833167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101707312..101708505hg38UCSC Ensembl
chr2:102323774..102324967hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381194
hg191194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15870886
Samples
Known GenesMAP4K4
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)nsv4055587
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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