A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4046949



Internal ID20173656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75328767..75336682hg38UCSC Ensembl
chr7:74957950..74965900hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387916
hg197951
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15784264, nssv15784263, nssv15784258, nssv15784260, nssv15784259, nssv15784262, nssv15784261
Samples
Known GenesPMS2P5, SPDYE8P
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)nsv4046949
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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