A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15917425



Internal ID19989365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1084229..1213667hg38UCSC Ensembl
chr7:1123865..1253303hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38129439
hg19129439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4143181
Supporting Variants
Samples
Known GenesC7orf50, GPER1, ZFAND2A
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)nssv15917425
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000095


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