A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144310



Internal ID20368945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151847885..151856533hg38UCSC Ensembl
chr6:152169020..152177668hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg388649
hg198649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2211n166
Supporting Variantsnssv15915119
Samples
Known GenesESR1
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)nsv4144310
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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