A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040627



Internal ID19822557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32231957..32237323hg38UCSC Ensembl
chr1:32697558..32702924hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg385367
hg195367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15850317
Samples
Known GenesMTMR9LP
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)nsv4040627
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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