A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4525250



Internal ID20255369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:102246124..103638125hg38UCSC Ensembl
chr6:102693999..104086000hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381392002
hg191392002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2171n166
Supporting Variantsnssv15912855
Samples
Known Genes
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)nsv4525250
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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