A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4134998



Internal ID20015531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74839120..74948119hg38UCSC Ensembl
chr7:74255000..74363000hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38109000
hg19108001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981053
Samples
Known GenesGTF2IRD2, PMS2P5, STAG3L2
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)nsv4134998
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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