A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4070834



Internal ID19968810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156228324..156267642hg38UCSC Ensembl
chr1:156198115..156237433hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3839319
hg1939319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15962714
Samples
Known GenesBGLAP, PAQR6, PMF1, PMF1-BGLAP, SMG5
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)nsv4070834
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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