A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873174



Internal ID19945114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148077328..148177948hg38UCSC Ensembl
chr2:148834897..148935517hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38100621
hg19100621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4073416
Supporting Variants
Samples
Known GenesMBD5
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)nssv15873174
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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