A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528147



Internal ID19911577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116600340..116810306hg38UCSC Ensembl
chr10:118359852..118569817hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38209967
hg19209966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15946919
Samples
Known GenesC10orf82, HSPA12A, PNLIPRP1, PNLIPRP2
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)nsv4528147
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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