A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15891272



Internal ID19963212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72138338..72365607hg38UCSC Ensembl
chr4:73004055..73231324hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38227270
hg19227270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4111966
Supporting Variants
Samples
Known GenesADAMTS3, NPFFR2
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 ID32461652
Accession Number(s)nssv15891272
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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