A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342171



Internal ID19840957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44979669..44993375hg38UCSC Ensembl
chr7:45019268..45032974hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3813707
hg1913707
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791065
Samples
Known GenesSNHG15, SNORA9
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)nsv4342171
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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