A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134062



Internal ID20014849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75835413..75956893hg38UCSC Ensembl
chr7:75464731..75586211hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38121481
hg19121481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15920352
Samples
Known GenesMIR4651, POR, RHBDD2, SNORA14A
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)nsv4134062
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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