A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4338828



Internal ID20186957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:64297090..64515371hg38UCSC Ensembl
chr7:63757468..63975749hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38218282
hg19218282
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791101
Samples
Known GenesYWHAEP1, ZNF736
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4338828
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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