A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15852470



Internal ID19924415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53776991..53777068hg38UCSC Ensembl
chr1:54242664..54242741hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4038964
Supporting Variants
Samples
Known GenesNDC1
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)nssv15852470
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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