A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4072250



Internal ID19969856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156201040..156235610hg38UCSC Ensembl
chr1:156170831..156205401hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3834571
hg1934571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15854977
Samples
Known GenesPMF1, PMF1-BGLAP, SLC25A44
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)nsv4072250
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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