A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873169



Internal ID19598423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148034720..148117422hg38UCSC Ensembl
chr2:148792289..148874991hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3882703
hg1982703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4079062
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 ID12345678
Accession Number(s)nssv15873169
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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