A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4537842



Internal ID20267818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53774075..53774076hg38UCSC Ensembl
chr1:54239748..54239749hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38646
hg19646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16023028
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)nsv4537842
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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