A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173520



Internal ID20043489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73003371..73018507hg38UCSC Ensembl
chr10:74763129..74778265hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815137
hg1915137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15796026
Samples
Known GenesP4HA1
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 ID12345678
Accession Number(s)nsv4173520
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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