A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4149639



Internal ID20026118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:71561073..71822380hg38UCSC Ensembl
chr7:71026058..71287365hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38261308
hg19261308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980585
Samples
Known GenesCALN1, WBSCR17
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)nsv4149639
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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