A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521950



Internal ID20252069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4140203..4145964hg38UCSC Ensembl
chr6:4140437..4146198hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg385762
hg195762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15908995
Samples
Known GenesLOC100507506
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)nsv4521950
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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