A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4051472



Internal ID19830164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1355463..1527301hg38UCSC Ensembl
chr1:1290843..1462681hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38171839
hg19171839
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963132
Samples
Known GenesANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CCNL2, LOC148413, MRPL20, MXRA8, TMEM88B, VWA1
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)nsv4051472
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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