A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789148



Internal ID19514511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26763481..26955082hg38UCSC Ensembl
chr1:27089972..27281573hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38191602
hg19191602
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4313420
Supporting Variants
Samples
Known GenesARID1A, C1orf172, GPATCH3, GPN2, NR0B2, NUDC, PIGV, SFN, ZDHHC18
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15789148
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000369


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