A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4068203



Internal ID19966936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120938220..120944205hg38UCSC Ensembl
chr1:144490000..144496000hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg385986
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15853711
Samples
Known GenesLOC100288142, LOC728875
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)nsv4068203
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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