A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4078095



Internal ID19974180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176151462..176156434hg38UCSC Ensembl
chr2:177016190..177021162hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384973
hg194973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15875959
Samples
Known GenesHOXD4
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)nsv4078095
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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