A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4140164



Internal ID20365961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:63892130..64398140hg38UCSC Ensembl
chr7:63352508..63858518hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38506011
hg19506011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15980569
Samples
Known GenesLINC01005, ZNF679, ZNF727, ZNF735, 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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4140164
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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