A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4065721



Internal ID20311803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61429794..61437373hg38UCSC Ensembl
chr2:61656929..61664508hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg387580
hg197580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15866964
Samples
Known GenesUSP34
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)nsv4065721
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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