A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15875878



Internal ID19601132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174409272..174459272hg38UCSC Ensembl
chr2:175274000..175324000hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850001
hg1950001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4085710
Supporting Variants
Samples
Known GenesGPR155, SCRN3
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)nssv15875878
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000047


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