A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956253



Internal ID19681507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44938865..44953865hg38UCSC Ensembl
chr13:45513000..45528000hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530301
Supporting Variants
Samples
Known GenesNUFIP1
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)nssv15956253
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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